← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 8-61517549-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=61517549&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 61517549,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001413844.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2105T>G",
"hgvs_p": "p.Ile702Ser",
"transcript": "NM_004318.4",
"protein_id": "NP_004309.2",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 758,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": "ENST00000379454.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004318.4"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2105T>G",
"hgvs_p": "p.Ile702Ser",
"transcript": "ENST00000379454.9",
"protein_id": "ENSP00000368767.4",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 758,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": "NM_004318.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379454.9"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2675T>G",
"hgvs_p": "p.Ile892Ser",
"transcript": "ENST00000950798.1",
"protein_id": "ENSP00000620857.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 948,
"cds_start": 2675,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2855,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950798.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2105T>G",
"hgvs_p": "p.Ile702Ser",
"transcript": "NM_001413844.1",
"protein_id": "NP_001400773.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 785,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 5382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413844.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2105T>G",
"hgvs_p": "p.Ile702Ser",
"transcript": "ENST00000887974.1",
"protein_id": "ENSP00000558033.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 785,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887974.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2102T>G",
"hgvs_p": "p.Ile701Ser",
"transcript": "ENST00000887966.1",
"protein_id": "ENSP00000558025.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 784,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887966.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2150T>G",
"hgvs_p": "p.Ile717Ser",
"transcript": "NM_001413845.1",
"protein_id": "NP_001400774.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 773,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 5346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413845.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2150T>G",
"hgvs_p": "p.Ile717Ser",
"transcript": "ENST00000887927.1",
"protein_id": "ENSP00000557986.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 773,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887927.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2147T>G",
"hgvs_p": "p.Ile716Ser",
"transcript": "NM_001413846.1",
"protein_id": "NP_001400775.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 772,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 5343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413846.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2147T>G",
"hgvs_p": "p.Ile716Ser",
"transcript": "ENST00000887945.1",
"protein_id": "ENSP00000558004.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 772,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887945.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2063T>G",
"hgvs_p": "p.Ile688Ser",
"transcript": "ENST00000887960.1",
"protein_id": "ENSP00000558019.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 771,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 4659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887960.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2144T>G",
"hgvs_p": "p.Ile715Ser",
"transcript": "ENST00000950785.1",
"protein_id": "ENSP00000620844.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 771,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950785.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2060T>G",
"hgvs_p": "p.Ile687Ser",
"transcript": "ENST00000913382.1",
"protein_id": "ENSP00000583441.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 770,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913382.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2048T>G",
"hgvs_p": "p.Ile683Ser",
"transcript": "NM_001413847.1",
"protein_id": "NP_001400776.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 766,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2269,
"cdna_end": null,
"cdna_length": 5325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413847.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2048T>G",
"hgvs_p": "p.Ile683Ser",
"transcript": "ENST00000887970.1",
"protein_id": "ENSP00000558029.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 766,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 4565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887970.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2045T>G",
"hgvs_p": "p.Ile682Ser",
"transcript": "ENST00000887950.1",
"protein_id": "ENSP00000558009.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 765,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887950.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2108T>G",
"hgvs_p": "p.Ile703Ser",
"transcript": "NM_001413848.1",
"protein_id": "NP_001400777.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 759,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413848.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2108T>G",
"hgvs_p": "p.Ile703Ser",
"transcript": "ENST00000887973.1",
"protein_id": "ENSP00000558032.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 759,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887973.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2108T>G",
"hgvs_p": "p.Ile703Ser",
"transcript": "ENST00000887975.1",
"protein_id": "ENSP00000558034.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 759,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2309,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887975.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2105T>G",
"hgvs_p": "p.Ile702Ser",
"transcript": "NM_001413849.1",
"protein_id": "NP_001400778.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 758,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413849.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2105T>G",
"hgvs_p": "p.Ile702Ser",
"transcript": "ENST00000950787.1",
"protein_id": "ENSP00000620846.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 758,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950787.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2102T>G",
"hgvs_p": "p.Ile701Ser",
"transcript": "NM_001413850.1",
"protein_id": "NP_001400779.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 757,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 5298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413850.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2102T>G",
"hgvs_p": "p.Ile701Ser",
"transcript": "NM_001413851.1",
"protein_id": "NP_001400780.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 757,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 5298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413851.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2102T>G",
"hgvs_p": "p.Ile701Ser",
"transcript": "ENST00000887926.1",
"protein_id": "ENSP00000557985.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 757,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887926.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2102T>G",
"hgvs_p": "p.Ile701Ser",
"transcript": "ENST00000950777.1",
"protein_id": "ENSP00000620836.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 757,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 5343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950777.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2102T>G",
"hgvs_p": "p.Ile701Ser",
"transcript": "ENST00000950795.1",
"protein_id": "ENSP00000620854.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 757,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950795.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2099T>G",
"hgvs_p": "p.Ile700Ser",
"transcript": "ENST00000913381.1",
"protein_id": "ENSP00000583440.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 756,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2237,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913381.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2093T>G",
"hgvs_p": "p.Ile698Ser",
"transcript": "NM_001413852.1",
"protein_id": "NP_001400781.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 754,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2314,
"cdna_end": null,
"cdna_length": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413852.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2093T>G",
"hgvs_p": "p.Ile698Ser",
"transcript": "ENST00000887931.1",
"protein_id": "ENSP00000557990.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 754,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887931.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2090T>G",
"hgvs_p": "p.Ile697Ser",
"transcript": "NM_001413853.1",
"protein_id": "NP_001400782.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 753,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413853.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2087T>G",
"hgvs_p": "p.Ile696Ser",
"transcript": "ENST00000887961.1",
"protein_id": "ENSP00000558020.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 752,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 4588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887961.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2063T>G",
"hgvs_p": "p.Ile688Ser",
"transcript": "NM_001413854.1",
"protein_id": "NP_001400783.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 744,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413854.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2063T>G",
"hgvs_p": "p.Ile688Ser",
"transcript": "NM_001413855.1",
"protein_id": "NP_001400784.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 744,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413855.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2063T>G",
"hgvs_p": "p.Ile688Ser",
"transcript": "NM_001413856.1",
"protein_id": "NP_001400785.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 744,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413856.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2063T>G",
"hgvs_p": "p.Ile688Ser",
"transcript": "ENST00000887938.1",
"protein_id": "ENSP00000557997.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 744,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887938.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2063T>G",
"hgvs_p": "p.Ile688Ser",
"transcript": "ENST00000887971.1",
"protein_id": "ENSP00000558030.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 744,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 3069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887971.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2060T>G",
"hgvs_p": "p.Ile687Ser",
"transcript": "NM_001413857.1",
"protein_id": "NP_001400786.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 743,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 5256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413857.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2060T>G",
"hgvs_p": "p.Ile687Ser",
"transcript": "ENST00000887933.1",
"protein_id": "ENSP00000557992.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 743,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887933.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2060T>G",
"hgvs_p": "p.Ile687Ser",
"transcript": "ENST00000887956.1",
"protein_id": "ENSP00000558015.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 743,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887956.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2060T>G",
"hgvs_p": "p.Ile687Ser",
"transcript": "ENST00000913383.1",
"protein_id": "ENSP00000583442.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 743,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 4494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913383.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2057T>G",
"hgvs_p": "p.Ile686Ser",
"transcript": "NM_001413858.1",
"protein_id": "NP_001400787.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 742,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 5253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413858.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1976T>G",
"hgvs_p": "p.Ile659Ser",
"transcript": "NM_001413859.1",
"protein_id": "NP_001400788.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 742,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 5253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413859.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2057T>G",
"hgvs_p": "p.Ile686Ser",
"transcript": "ENST00000887948.1",
"protein_id": "ENSP00000558007.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 742,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887948.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1976T>G",
"hgvs_p": "p.Ile659Ser",
"transcript": "ENST00000887964.1",
"protein_id": "ENSP00000558023.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 742,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887964.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2048T>G",
"hgvs_p": "p.Ile683Ser",
"transcript": "NM_001413860.1",
"protein_id": "NP_001400789.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 739,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2269,
"cdna_end": null,
"cdna_length": 5244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413860.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2048T>G",
"hgvs_p": "p.Ile683Ser",
"transcript": "ENST00000887925.1",
"protein_id": "ENSP00000557984.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 739,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 5423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887925.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2048T>G",
"hgvs_p": "p.Ile683Ser",
"transcript": "ENST00000950778.1",
"protein_id": "ENSP00000620837.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 739,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2291,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950778.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2045T>G",
"hgvs_p": "p.Ile682Ser",
"transcript": "NM_001413861.1",
"protein_id": "NP_001400790.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 738,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2266,
"cdna_end": null,
"cdna_length": 5241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413861.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2045T>G",
"hgvs_p": "p.Ile682Ser",
"transcript": "ENST00000887930.1",
"protein_id": "ENSP00000557989.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 738,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 5294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887930.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2030T>G",
"hgvs_p": "p.Ile677Ser",
"transcript": "NM_001413862.1",
"protein_id": "NP_001400791.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 733,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2251,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413862.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2021T>G",
"hgvs_p": "p.Ile674Ser",
"transcript": "NM_001413863.1",
"protein_id": "NP_001400792.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 730,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 5217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413863.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2021T>G",
"hgvs_p": "p.Ile674Ser",
"transcript": "ENST00000887942.1",
"protein_id": "ENSP00000558001.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 730,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887942.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2018T>G",
"hgvs_p": "p.Ile673Ser",
"transcript": "NM_001164750.2",
"protein_id": "NP_001158222.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 729,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164750.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2018T>G",
"hgvs_p": "p.Ile673Ser",
"transcript": "NM_001413864.1",
"protein_id": "NP_001400793.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 729,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413864.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2018T>G",
"hgvs_p": "p.Ile673Ser",
"transcript": "NM_001413865.1",
"protein_id": "NP_001400794.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 729,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413865.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2018T>G",
"hgvs_p": "p.Ile673Ser",
"transcript": "NM_001413866.1",
"protein_id": "NP_001400795.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 729,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413866.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2018T>G",
"hgvs_p": "p.Ile673Ser",
"transcript": "ENST00000541428.5",
"protein_id": "ENSP00000437864.1",
"transcript_support_level": 2,
"aa_start": 673,
"aa_end": null,
"aa_length": 729,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541428.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2018T>G",
"hgvs_p": "p.Ile673Ser",
"transcript": "ENST00000887959.1",
"protein_id": "ENSP00000558018.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 729,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 4538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887959.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2018T>G",
"hgvs_p": "p.Ile673Ser",
"transcript": "ENST00000913379.1",
"protein_id": "ENSP00000583438.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 729,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2226,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913379.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2015T>G",
"hgvs_p": "p.Ile672Ser",
"transcript": "ENST00000887955.1",
"protein_id": "ENSP00000558014.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 728,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887955.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2006T>G",
"hgvs_p": "p.Ile669Ser",
"transcript": "NM_001413867.1",
"protein_id": "NP_001400796.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 725,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 5202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413867.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2006T>G",
"hgvs_p": "p.Ile669Ser",
"transcript": "NM_001413868.1",
"protein_id": "NP_001400797.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 725,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 5202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413868.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2006T>G",
"hgvs_p": "p.Ile669Ser",
"transcript": "ENST00000887947.1",
"protein_id": "ENSP00000558006.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 725,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 4544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887947.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2006T>G",
"hgvs_p": "p.Ile669Ser",
"transcript": "ENST00000887962.1",
"protein_id": "ENSP00000558021.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 725,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887962.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2006T>G",
"hgvs_p": "p.Ile669Ser",
"transcript": "ENST00000950796.1",
"protein_id": "ENSP00000620855.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 725,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950796.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2003T>G",
"hgvs_p": "p.Ile668Ser",
"transcript": "NM_001413869.1",
"protein_id": "NP_001400798.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 724,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 5199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413869.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2003T>G",
"hgvs_p": "p.Ile668Ser",
"transcript": "ENST00000887943.1",
"protein_id": "ENSP00000558002.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 724,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 4581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887943.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2000T>G",
"hgvs_p": "p.Ile667Ser",
"transcript": "NM_001413870.1",
"protein_id": "NP_001400799.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 723,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 5196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413870.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2000T>G",
"hgvs_p": "p.Ile667Ser",
"transcript": "ENST00000887946.1",
"protein_id": "ENSP00000558005.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 723,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 4538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887946.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"transcript": "ENST00000950792.1",
"protein_id": "ENSP00000620851.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 723,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 4511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950792.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1976T>G",
"hgvs_p": "p.Ile659Ser",
"transcript": "NM_001413871.1",
"protein_id": "NP_001400800.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 715,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413871.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1976T>G",
"hgvs_p": "p.Ile659Ser",
"transcript": "NM_001413872.1",
"protein_id": "NP_001400801.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 715,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413872.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1976T>G",
"hgvs_p": "p.Ile659Ser",
"transcript": "ENST00000887935.1",
"protein_id": "ENSP00000557994.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 715,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887935.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1976T>G",
"hgvs_p": "p.Ile659Ser",
"transcript": "ENST00000887972.1",
"protein_id": "ENSP00000558031.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 715,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887972.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1976T>G",
"hgvs_p": "p.Ile659Ser",
"transcript": "ENST00000950782.1",
"protein_id": "ENSP00000620841.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 715,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 5123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950782.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1973T>G",
"hgvs_p": "p.Ile658Ser",
"transcript": "NM_001413873.1",
"protein_id": "NP_001400802.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 714,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413873.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1973T>G",
"hgvs_p": "p.Ile658Ser",
"transcript": "ENST00000887934.1",
"protein_id": "ENSP00000557993.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 714,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2216,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887934.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1973T>G",
"hgvs_p": "p.Ile658Ser",
"transcript": "ENST00000950789.1",
"protein_id": "ENSP00000620848.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 714,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 4494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950789.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1964T>G",
"hgvs_p": "p.Ile655Ser",
"transcript": "NM_001413874.1",
"protein_id": "NP_001400803.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 711,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413874.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1964T>G",
"hgvs_p": "p.Ile655Ser",
"transcript": "ENST00000887953.1",
"protein_id": "ENSP00000558012.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 711,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887953.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1961T>G",
"hgvs_p": "p.Ile654Ser",
"transcript": "NM_001413875.1",
"protein_id": "NP_001400804.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 710,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 5157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413875.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1961T>G",
"hgvs_p": "p.Ile654Ser",
"transcript": "ENST00000887949.1",
"protein_id": "ENSP00000558008.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 710,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 4498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887949.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1961T>G",
"hgvs_p": "p.Ile654Ser",
"transcript": "ENST00000887954.1",
"protein_id": "ENSP00000558013.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 710,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887954.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1961T>G",
"hgvs_p": "p.Ile654Ser",
"transcript": "ENST00000950783.1",
"protein_id": "ENSP00000620842.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 710,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950783.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1958T>G",
"hgvs_p": "p.Ile653Ser",
"transcript": "ENST00000950786.1",
"protein_id": "ENSP00000620845.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 709,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950786.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1874T>G",
"hgvs_p": "p.Ile625Ser",
"transcript": "ENST00000950797.1",
"protein_id": "ENSP00000620856.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 708,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 4423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950797.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1871T>G",
"hgvs_p": "p.Ile624Ser",
"transcript": "ENST00000950781.1",
"protein_id": "ENSP00000620840.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 707,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 5107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950781.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1934T>G",
"hgvs_p": "p.Ile645Ser",
"transcript": "NM_001413876.1",
"protein_id": "NP_001400805.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 701,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 5130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413876.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1934T>G",
"hgvs_p": "p.Ile645Ser",
"transcript": "NM_001413877.1",
"protein_id": "NP_001400806.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 701,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 5130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413877.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1934T>G",
"hgvs_p": "p.Ile645Ser",
"transcript": "ENST00000887936.1",
"protein_id": "ENSP00000557995.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 701,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 5148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887936.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1934T>G",
"hgvs_p": "p.Ile645Ser",
"transcript": "ENST00000950794.1",
"protein_id": "ENSP00000620853.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 701,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950794.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1931T>G",
"hgvs_p": "p.Ile644Ser",
"transcript": "NM_001413878.1",
"protein_id": "NP_001400807.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 700,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413878.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1931T>G",
"hgvs_p": "p.Ile644Ser",
"transcript": "ENST00000887952.1",
"protein_id": "ENSP00000558011.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 700,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887952.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1928T>G",
"hgvs_p": "p.Ile643Ser",
"transcript": "NM_001413879.1",
"protein_id": "NP_001400808.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 699,
"cds_start": 1928,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413879.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1928T>G",
"hgvs_p": "p.Ile643Ser",
"transcript": "ENST00000887941.1",
"protein_id": "ENSP00000558000.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 699,
"cds_start": 1928,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887941.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"transcript": "NM_001413880.1",
"protein_id": "NP_001400809.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 696,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 5115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413880.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"transcript": "NM_001413881.1",
"protein_id": "NP_001400810.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 696,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 5115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413881.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"transcript": "ENST00000887928.1",
"protein_id": "ENSP00000557987.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 696,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887928.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"transcript": "ENST00000887969.1",
"protein_id": "ENSP00000558028.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 696,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887969.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1919T>G",
"hgvs_p": "p.Ile640Ser",
"transcript": "ENST00000913380.1",
"protein_id": "ENSP00000583439.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 696,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913380.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1916T>G",
"hgvs_p": "p.Ile639Ser",
"transcript": "NM_001413882.1",
"protein_id": "NP_001400811.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 695,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 5112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413882.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1916T>G",
"hgvs_p": "p.Ile639Ser",
"transcript": "ENST00000887939.1",
"protein_id": "ENSP00000557998.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 695,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887939.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1916T>G",
"hgvs_p": "p.Ile639Ser",
"transcript": "ENST00000887940.1",
"protein_id": "ENSP00000557999.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 695,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 5115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887940.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1916T>G",
"hgvs_p": "p.Ile639Ser",
"transcript": "ENST00000950779.1",
"protein_id": "ENSP00000620838.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 695,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950779.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1901T>G",
"hgvs_p": "p.Ile634Ser",
"transcript": "NM_001413883.1",
"protein_id": "NP_001400812.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 690,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413883.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1898T>G",
"hgvs_p": "p.Ile633Ser",
"transcript": "NM_001413884.1",
"protein_id": "NP_001400813.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 689,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413884.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1892T>G",
"hgvs_p": "p.Ile631Ser",
"transcript": "ENST00000950780.1",
"protein_id": "ENSP00000620839.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 687,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 5056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950780.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1889T>G",
"hgvs_p": "p.Ile630Ser",
"transcript": "NM_001413885.1",
"protein_id": "NP_001400814.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 686,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 5085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413885.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1880T>G",
"hgvs_p": "p.Ile627Ser",
"transcript": "ENST00000950793.1",
"protein_id": "ENSP00000620852.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 683,
"cds_start": 1880,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950793.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1877T>G",
"hgvs_p": "p.Ile626Ser",
"transcript": "NM_001413886.1",
"protein_id": "NP_001400815.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 682,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413886.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1877T>G",
"hgvs_p": "p.Ile626Ser",
"transcript": "NM_001413887.1",
"protein_id": "NP_001400816.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 682,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413887.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1877T>G",
"hgvs_p": "p.Ile626Ser",
"transcript": "ENST00000887932.1",
"protein_id": "ENSP00000557991.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 682,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887932.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1877T>G",
"hgvs_p": "p.Ile626Ser",
"transcript": "ENST00000887963.1",
"protein_id": "ENSP00000558022.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 682,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 4373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887963.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1874T>G",
"hgvs_p": "p.Ile625Ser",
"transcript": "NM_001413888.1",
"protein_id": "NP_001400817.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 681,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 5070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413888.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1874T>G",
"hgvs_p": "p.Ile625Ser",
"transcript": "ENST00000887929.1",
"protein_id": "ENSP00000557988.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 681,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887929.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1874T>G",
"hgvs_p": "p.Ile625Ser",
"transcript": "ENST00000950784.1",
"protein_id": "ENSP00000620843.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 681,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 4975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950784.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1871T>G",
"hgvs_p": "p.Ile624Ser",
"transcript": "ENST00000950776.1",
"protein_id": "ENSP00000620835.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 680,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950776.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1862T>G",
"hgvs_p": "p.Ile621Ser",
"transcript": "NM_001413889.1",
"protein_id": "NP_001400818.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 677,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 5058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413889.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1856T>G",
"hgvs_p": "p.Ile619Ser",
"transcript": "NM_001413890.1",
"protein_id": "NP_001400819.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 675,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413890.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1847T>G",
"hgvs_p": "p.Ile616Ser",
"transcript": "ENST00000887968.1",
"protein_id": "ENSP00000558027.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 672,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887968.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1844T>G",
"hgvs_p": "p.Ile615Ser",
"transcript": "NM_001413894.1",
"protein_id": "NP_001400823.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 671,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 5040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413894.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1826T>G",
"hgvs_p": "p.Ile609Ser",
"transcript": "ENST00000887937.1",
"protein_id": "ENSP00000557996.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 665,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887937.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1817T>G",
"hgvs_p": "p.Ile606Ser",
"transcript": "ENST00000887944.1",
"protein_id": "ENSP00000558003.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 662,
"cds_start": 1817,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887944.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1814T>G",
"hgvs_p": "p.Ile605Ser",
"transcript": "ENST00000887951.1",
"protein_id": "ENSP00000558010.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 661,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887951.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1799T>G",
"hgvs_p": "p.Ile600Ser",
"transcript": "NM_001413895.1",
"protein_id": "NP_001400824.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 656,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 4995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413895.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1775T>G",
"hgvs_p": "p.Ile592Ser",
"transcript": "ENST00000950788.1",
"protein_id": "ENSP00000620847.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 648,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950788.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1706T>G",
"hgvs_p": "p.Ile569Ser",
"transcript": "NM_001413898.1",
"protein_id": "NP_001400827.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 625,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 4902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413898.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1661T>G",
"hgvs_p": "p.Ile554Ser",
"transcript": "ENST00000950790.1",
"protein_id": "ENSP00000620849.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 610,
"cds_start": 1661,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950790.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1628T>G",
"hgvs_p": "p.Ile543Ser",
"transcript": "NM_001413899.1",
"protein_id": "NP_001400828.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 599,
"cds_start": 1628,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413899.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1619T>G",
"hgvs_p": "p.Ile540Ser",
"transcript": "NM_001413900.1",
"protein_id": "NP_001400829.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 596,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 4815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413900.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1619T>G",
"hgvs_p": "p.Ile540Ser",
"transcript": "ENST00000887958.1",
"protein_id": "ENSP00000558017.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 596,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 4141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887958.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1571T>G",
"hgvs_p": "p.Ile524Ser",
"transcript": "ENST00000950791.1",
"protein_id": "ENSP00000620850.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 580,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950791.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1496T>G",
"hgvs_p": "p.Ile499Ser",
"transcript": "ENST00000887976.1",
"protein_id": "ENSP00000558035.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 555,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887976.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1493T>G",
"hgvs_p": "p.Ile498Ser",
"transcript": "NM_001413909.1",
"protein_id": "NP_001400838.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 554,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 4689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413909.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1451T>G",
"hgvs_p": "p.Ile484Ser",
"transcript": "NM_001413901.1",
"protein_id": "NP_001400830.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 540,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413901.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1451T>G",
"hgvs_p": "p.Ile484Ser",
"transcript": "ENST00000887967.1",
"protein_id": "ENSP00000558026.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 540,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887967.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1430T>G",
"hgvs_p": "p.Ile477Ser",
"transcript": "ENST00000887957.1",
"protein_id": "ENSP00000558016.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 533,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887957.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1163T>G",
"hgvs_p": "p.Ile388Ser",
"transcript": "ENST00000887965.1",
"protein_id": "ENSP00000558024.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 444,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887965.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2150T>G",
"hgvs_p": "p.Ile717Ser",
"transcript": "XM_017013419.2",
"protein_id": "XP_016868908.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 800,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 5427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013419.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2147T>G",
"hgvs_p": "p.Ile716Ser",
"transcript": "XM_017013420.2",
"protein_id": "XP_016868909.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 799,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 5424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013420.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2063T>G",
"hgvs_p": "p.Ile688Ser",
"transcript": "XM_017013426.2",
"protein_id": "XP_016868915.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 771,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 5242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013426.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2060T>G",
"hgvs_p": "p.Ile687Ser",
"transcript": "XM_017013427.2",
"protein_id": "XP_016868916.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 770,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 5239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013427.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2021T>G",
"hgvs_p": "p.Ile674Ser",
"transcript": "XM_017013430.2",
"protein_id": "XP_016868919.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 757,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 5298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013430.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2018T>G",
"hgvs_p": "p.Ile673Ser",
"transcript": "XM_017013431.2",
"protein_id": "XP_016868920.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 756,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 5197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013431.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2003T>G",
"hgvs_p": "p.Ile668Ser",
"transcript": "XM_017013435.2",
"protein_id": "XP_016868924.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 751,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 5182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013435.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2015T>G",
"hgvs_p": "p.Ile672Ser",
"transcript": "XM_017013439.2",
"protein_id": "XP_016868928.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 728,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 5113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013439.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1934T>G",
"hgvs_p": "p.Ile645Ser",
"transcript": "XM_017013440.2",
"protein_id": "XP_016868929.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 728,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 5113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013440.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.2003T>G",
"hgvs_p": "p.Ile668Ser",
"transcript": "XM_005251244.2",
"protein_id": "XP_005251301.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 724,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251244.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1961T>G",
"hgvs_p": "p.Ile654Ser",
"transcript": "XM_047421791.1",
"protein_id": "XP_047277747.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 710,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 5059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421791.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1889T>G",
"hgvs_p": "p.Ile630Ser",
"transcript": "XM_017013444.2",
"protein_id": "XP_016868933.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 686,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 4987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013444.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1992+483T>G",
"hgvs_p": null,
"transcript": "NM_001413891.1",
"protein_id": "NP_001400820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 674,
"cds_start": null,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1989+483T>G",
"hgvs_p": null,
"transcript": "NM_001413893.1",
"protein_id": "NP_001400822.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413893.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1935+483T>G",
"hgvs_p": null,
"transcript": "NM_001413896.1",
"protein_id": "NP_001400825.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 655,
"cds_start": null,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413896.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1863+483T>G",
"hgvs_p": null,
"transcript": "NM_001413897.1",
"protein_id": "NP_001400826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413897.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "n.315T>G",
"hgvs_p": null,
"transcript": "ENST00000521909.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 851,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000521909.1"
}
],
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"dbsnp": "rs557817791",
"frequency_reference_population": 6.840881e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84088e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9549137353897095,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.722,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9966,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.815,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001413844.1",
"gene_symbol": "ASPH",
"hgnc_id": 757,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2105T>G",
"hgvs_p": "p.Ile702Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}