← 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: 12-1027961-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=1027961&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 1027961,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_178040.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "NM_178040.4",
"protein_id": "NP_829884.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1116,
"cds_start": 58,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360905.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178040.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000360905.9",
"protein_id": "ENSP00000354158.3",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 1116,
"cds_start": 58,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178040.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360905.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000589028.6",
"protein_id": "ENSP00000468263.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 1116,
"cds_start": 58,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589028.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000543086.7",
"protein_id": "ENSP00000438546.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 58,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543086.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000355446.9",
"protein_id": "ENSP00000347621.5",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 1086,
"cds_start": 58,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355446.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.58C>T",
"hgvs_p": null,
"transcript": "ENST00000347735.10",
"protein_id": "ENSP00000340054.6",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000347735.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.58C>T",
"hgvs_p": null,
"transcript": "ENST00000440394.7",
"protein_id": "ENSP00000410064.2",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000440394.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.58C>T",
"hgvs_p": null,
"transcript": "ENST00000545948.5",
"protein_id": "ENSP00000442976.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000545948.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000546231.6",
"protein_id": "ENSP00000442739.2",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 1120,
"cds_start": 58,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546231.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000950324.1",
"protein_id": "ENSP00000620383.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1120,
"cds_start": 58,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950324.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000950325.1",
"protein_id": "ENSP00000620384.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1120,
"cds_start": 58,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950325.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000950327.1",
"protein_id": "ENSP00000620386.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1120,
"cds_start": 58,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950327.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000397203.7",
"protein_id": "ENSP00000380386.4",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 1116,
"cds_start": 58,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397203.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000895621.1",
"protein_id": "ENSP00000565680.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1116,
"cds_start": 58,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895621.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000895624.1",
"protein_id": "ENSP00000565683.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1116,
"cds_start": 58,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895624.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000895626.1",
"protein_id": "ENSP00000565685.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1116,
"cds_start": 58,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895626.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000895631.1",
"protein_id": "ENSP00000565690.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1116,
"cds_start": 58,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895631.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "NM_178039.4",
"protein_id": "NP_829883.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 58,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178039.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000895622.1",
"protein_id": "ENSP00000565681.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 58,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895622.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000895623.1",
"protein_id": "ENSP00000565682.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 58,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895623.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000895625.1",
"protein_id": "ENSP00000565684.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 58,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895625.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000916653.1",
"protein_id": "ENSP00000586712.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 58,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916653.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "NM_001301248.1",
"protein_id": "NP_001288177.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1086,
"cds_start": 58,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301248.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000895630.1",
"protein_id": "ENSP00000565689.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1072,
"cds_start": 58,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895630.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000916652.1",
"protein_id": "ENSP00000586711.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1072,
"cds_start": 58,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916652.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000916654.1",
"protein_id": "ENSP00000586713.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1072,
"cds_start": 58,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916654.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000895627.1",
"protein_id": "ENSP00000565686.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1069,
"cds_start": 58,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895627.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000895629.1",
"protein_id": "ENSP00000565688.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1036,
"cds_start": 58,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895629.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000950328.1",
"protein_id": "ENSP00000620387.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1030,
"cds_start": 58,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950328.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000895628.1",
"protein_id": "ENSP00000565687.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1014,
"cds_start": 58,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895628.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000950326.1",
"protein_id": "ENSP00000620385.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 977,
"cds_start": 58,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950326.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000611180.5",
"protein_id": "ENSP00000479523.2",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 804,
"cds_start": 58,
"cds_end": null,
"cds_length": 2417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611180.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000545318.3",
"protein_id": "ENSP00000465628.2",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 681,
"cds_start": 58,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545318.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "ENST00000589132.1",
"protein_id": "ENSP00000464959.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 144,
"cds_start": 58,
"cds_end": null,
"cds_length": 436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589132.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019052.2",
"protein_id": "XP_016874541.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1141,
"cds_start": 58,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019052.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019054.2",
"protein_id": "XP_016874543.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1141,
"cds_start": 58,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019054.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019055.3",
"protein_id": "XP_016874544.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1141,
"cds_start": 58,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019055.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019056.2",
"protein_id": "XP_016874545.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1141,
"cds_start": 58,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019056.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019057.2",
"protein_id": "XP_016874546.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1138,
"cds_start": 58,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019057.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428556.1",
"protein_id": "XP_047284512.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1138,
"cds_start": 58,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428556.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428557.1",
"protein_id": "XP_047284513.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1138,
"cds_start": 58,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428557.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428558.1",
"protein_id": "XP_047284514.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1138,
"cds_start": 58,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428558.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019059.2",
"protein_id": "XP_016874548.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1137,
"cds_start": 58,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019059.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428559.1",
"protein_id": "XP_047284515.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1137,
"cds_start": 58,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428559.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019060.2",
"protein_id": "XP_016874549.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1134,
"cds_start": 58,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019060.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428560.1",
"protein_id": "XP_047284516.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1134,
"cds_start": 58,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428560.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428561.1",
"protein_id": "XP_047284517.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1134,
"cds_start": 58,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428561.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428562.1",
"protein_id": "XP_047284518.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1134,
"cds_start": 58,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428562.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019061.2",
"protein_id": "XP_016874550.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1123,
"cds_start": 58,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019061.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019062.2",
"protein_id": "XP_016874551.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1120,
"cds_start": 58,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019062.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019063.2",
"protein_id": "XP_016874552.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1119,
"cds_start": 58,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019063.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428563.1",
"protein_id": "XP_047284519.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1119,
"cds_start": 58,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428563.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428564.1",
"protein_id": "XP_047284520.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1119,
"cds_start": 58,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428564.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019064.2",
"protein_id": "XP_016874553.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1116,
"cds_start": 58,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019064.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428565.1",
"protein_id": "XP_047284521.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1116,
"cds_start": 58,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428565.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428566.1",
"protein_id": "XP_047284522.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1116,
"cds_start": 58,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428566.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428567.1",
"protein_id": "XP_047284523.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1116,
"cds_start": 58,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428567.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019065.2",
"protein_id": "XP_016874554.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1110,
"cds_start": 58,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019065.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428568.1",
"protein_id": "XP_047284524.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1110,
"cds_start": 58,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428568.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428569.1",
"protein_id": "XP_047284525.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1110,
"cds_start": 58,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428569.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428570.1",
"protein_id": "XP_047284526.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1110,
"cds_start": 58,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428570.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428571.1",
"protein_id": "XP_047284527.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1106,
"cds_start": 58,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428571.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428572.1",
"protein_id": "XP_047284528.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1106,
"cds_start": 58,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428572.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428573.1",
"protein_id": "XP_047284529.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1106,
"cds_start": 58,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428573.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019066.2",
"protein_id": "XP_016874555.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1092,
"cds_start": 58,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019066.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019067.2",
"protein_id": "XP_016874556.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 58,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019067.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428574.1",
"protein_id": "XP_047284530.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 58,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428574.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428575.1",
"protein_id": "XP_047284531.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 58,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428575.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428576.1",
"protein_id": "XP_047284532.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1088,
"cds_start": 58,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428576.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019069.2",
"protein_id": "XP_016874558.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1079,
"cds_start": 58,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019069.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019070.2",
"protein_id": "XP_016874559.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1072,
"cds_start": 58,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019070.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428577.1",
"protein_id": "XP_047284533.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1072,
"cds_start": 58,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428577.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428578.1",
"protein_id": "XP_047284534.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1044,
"cds_start": 58,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428578.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428579.1",
"protein_id": "XP_047284535.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1044,
"cds_start": 58,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428579.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_017019072.2",
"protein_id": "XP_016874561.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1041,
"cds_start": 58,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019072.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428580.1",
"protein_id": "XP_047284536.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1023,
"cds_start": 58,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428580.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428581.1",
"protein_id": "XP_047284537.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1019,
"cds_start": 58,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428581.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428582.1",
"protein_id": "XP_047284538.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1016,
"cds_start": 58,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428582.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428583.1",
"protein_id": "XP_047284539.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 979,
"cds_start": 58,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428583.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_047428584.1",
"protein_id": "XP_047284540.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 976,
"cds_start": 58,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428584.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "c.-18-378C>T",
"hgvs_p": null,
"transcript": "ENST00000592048.5",
"protein_id": "ENSP00000467476.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": null,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592048.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.449C>T",
"hgvs_p": null,
"transcript": "ENST00000536573.7",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000536573.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.58C>T",
"hgvs_p": null,
"transcript": "ENST00000542302.6",
"protein_id": "ENSP00000445336.2",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000542302.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.449C>T",
"hgvs_p": null,
"transcript": "ENST00000686476.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000686476.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.449C>T",
"hgvs_p": null,
"transcript": "ENST00000690222.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000690222.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.477C>T",
"hgvs_p": null,
"transcript": "ENST00000691018.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000691018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.449C>T",
"hgvs_p": null,
"transcript": "ENST00000692909.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000692909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.479C>T",
"hgvs_p": null,
"transcript": "NR_027946.3",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027946.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.479C>T",
"hgvs_p": null,
"transcript": "NR_027948.3",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027948.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.314C>T",
"hgvs_p": null,
"transcript": "NR_027949.3",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027949.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.479C>T",
"hgvs_p": null,
"transcript": "XR_001748631.3",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001748631.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"hgvs_c": "n.259+36474C>T",
"hgvs_p": null,
"transcript": "ENST00000690948.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000690948.1"
}
],
"gene_symbol": "ERC1",
"gene_hgnc_id": 17072,
"dbsnp": "rs377032908",
"frequency_reference_population": 0.000006196432,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.000004789,
"gnomad_genomes_af": 0.0000197174,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7681351900100708,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.597,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.871,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_178040.4",
"gene_symbol": "ERC1",
"hgnc_id": 17072,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}