← 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: 20-36182312-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36182312&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 36182312,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001433605.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_012156.2",
"protein_id": "NP_036288.2",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 881,
"cds_start": 531,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338074.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012156.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000338074.7",
"protein_id": "ENSP00000337168.2",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 881,
"cds_start": 531,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012156.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338074.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000373946.7",
"protein_id": "ENSP00000363057.4",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 880,
"cds_start": 531,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373946.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "ENST00000202028.9",
"protein_id": "ENSP00000202028.5",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 779,
"cds_start": 345,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000202028.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000636016.2",
"protein_id": "ENSP00000489867.2",
"transcript_support_level": 2,
"aa_start": 177,
"aa_end": null,
"aa_length": 1595,
"cds_start": 531,
"cds_end": null,
"cds_length": 4788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636016.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001433605.1",
"protein_id": "NP_001420534.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 1538,
"cds_start": 531,
"cds_end": null,
"cds_length": 4617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001433605.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887266.1",
"protein_id": "ENSP00000557325.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 916,
"cds_start": 531,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887266.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887241.1",
"protein_id": "ENSP00000557300.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 915,
"cds_start": 531,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887241.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887256.1",
"protein_id": "ENSP00000557315.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 915,
"cds_start": 531,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887256.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887260.1",
"protein_id": "ENSP00000557319.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 887,
"cds_start": 531,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887260.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001258329.1",
"protein_id": "NP_001245258.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 880,
"cds_start": 531,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258329.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424402.1",
"protein_id": "NP_001411331.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 880,
"cds_start": 531,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424402.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000373941.5",
"protein_id": "ENSP00000363052.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 880,
"cds_start": 531,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373941.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887223.1",
"protein_id": "ENSP00000557282.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 880,
"cds_start": 531,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887223.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887237.1",
"protein_id": "ENSP00000557296.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 880,
"cds_start": 531,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887237.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887245.1",
"protein_id": "ENSP00000557304.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 880,
"cds_start": 531,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887245.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887263.1",
"protein_id": "ENSP00000557322.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 880,
"cds_start": 531,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887263.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887255.1",
"protein_id": "ENSP00000557314.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 879,
"cds_start": 531,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887255.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887261.1",
"protein_id": "ENSP00000557320.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 879,
"cds_start": 531,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887261.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424401.1",
"protein_id": "NP_001411330.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 869,
"cds_start": 531,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424401.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887207.1",
"protein_id": "ENSP00000557266.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 869,
"cds_start": 531,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887207.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887210.1",
"protein_id": "ENSP00000557269.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 869,
"cds_start": 531,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887210.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887221.1",
"protein_id": "ENSP00000557280.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 869,
"cds_start": 531,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887221.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887248.1",
"protein_id": "ENSP00000557307.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 869,
"cds_start": 531,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887248.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424399.1",
"protein_id": "NP_001411328.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 868,
"cds_start": 531,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424399.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424400.1",
"protein_id": "NP_001411329.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 868,
"cds_start": 531,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424400.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887211.1",
"protein_id": "ENSP00000557270.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 868,
"cds_start": 531,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887211.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887215.1",
"protein_id": "ENSP00000557274.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 868,
"cds_start": 531,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887215.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887218.1",
"protein_id": "ENSP00000557277.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 868,
"cds_start": 531,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887218.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887224.1",
"protein_id": "ENSP00000557283.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 868,
"cds_start": 531,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887224.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887226.1",
"protein_id": "ENSP00000557285.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 868,
"cds_start": 531,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887226.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887238.1",
"protein_id": "ENSP00000557297.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 868,
"cds_start": 531,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887238.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887254.1",
"protein_id": "ENSP00000557313.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 868,
"cds_start": 531,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887254.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424398.1",
"protein_id": "NP_001411327.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 867,
"cds_start": 531,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424398.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887213.1",
"protein_id": "ENSP00000557272.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 867,
"cds_start": 531,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887213.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000912862.1",
"protein_id": "ENSP00000582921.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 867,
"cds_start": 531,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912862.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000941884.1",
"protein_id": "ENSP00000611943.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 867,
"cds_start": 531,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941884.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000941886.1",
"protein_id": "ENSP00000611945.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 857,
"cds_start": 531,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941886.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424397.1",
"protein_id": "NP_001411326.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 853,
"cds_start": 531,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424397.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887243.1",
"protein_id": "ENSP00000557302.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 853,
"cds_start": 531,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887243.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887246.1",
"protein_id": "ENSP00000557305.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 853,
"cds_start": 531,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887246.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000941883.1",
"protein_id": "ENSP00000611942.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 853,
"cds_start": 531,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941883.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887253.1",
"protein_id": "ENSP00000557312.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 852,
"cds_start": 531,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887253.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887264.1",
"protein_id": "ENSP00000557323.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 852,
"cds_start": 531,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887264.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424396.1",
"protein_id": "NP_001411325.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 841,
"cds_start": 531,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424396.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424395.1",
"protein_id": "NP_001411324.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 840,
"cds_start": 531,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424395.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000941887.1",
"protein_id": "ENSP00000611946.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 840,
"cds_start": 531,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941887.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.525G>T",
"hgvs_p": "p.Pro175Pro",
"transcript": "ENST00000941888.1",
"protein_id": "ENSP00000611947.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 838,
"cds_start": 525,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941888.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Pro142Pro",
"transcript": "ENST00000912864.1",
"protein_id": "ENSP00000582923.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 833,
"cds_start": 426,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912864.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887259.1",
"protein_id": "ENSP00000557318.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 825,
"cds_start": 531,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887259.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887242.1",
"protein_id": "ENSP00000557301.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 824,
"cds_start": 531,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887242.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887240.1",
"protein_id": "ENSP00000557299.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 823,
"cds_start": 531,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887240.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000912865.1",
"protein_id": "ENSP00000582924.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 812,
"cds_start": 531,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912865.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887258.1",
"protein_id": "ENSP00000557317.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 811,
"cds_start": 531,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887258.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424394.1",
"protein_id": "NP_001411323.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 807,
"cds_start": 345,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424394.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424407.1",
"protein_id": "NP_001411336.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 807,
"cds_start": 345,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424407.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424392.1",
"protein_id": "NP_001411321.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 806,
"cds_start": 345,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424392.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424393.1",
"protein_id": "NP_001411322.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 806,
"cds_start": 345,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424393.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424406.1",
"protein_id": "NP_001411335.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 806,
"cds_start": 345,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424406.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424391.1",
"protein_id": "NP_001411320.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 805,
"cds_start": 345,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424391.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887244.1",
"protein_id": "ENSP00000557303.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 796,
"cds_start": 531,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887244.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887251.1",
"protein_id": "ENSP00000557310.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 783,
"cds_start": 531,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887251.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001258331.2",
"protein_id": "NP_001245260.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 779,
"cds_start": 345,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258331.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424390.1",
"protein_id": "NP_001411319.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 779,
"cds_start": 345,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424390.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_177996.2",
"protein_id": "NP_818932.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 779,
"cds_start": 345,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177996.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "ENST00000441639.5",
"protein_id": "ENSP00000399214.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 779,
"cds_start": 345,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441639.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424389.1",
"protein_id": "NP_001411318.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 778,
"cds_start": 345,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424389.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Pro142Pro",
"transcript": "ENST00000912861.1",
"protein_id": "ENSP00000582920.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 776,
"cds_start": 426,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912861.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.240G>T",
"hgvs_p": "p.Pro80Pro",
"transcript": "ENST00000373950.6",
"protein_id": "ENSP00000363061.2",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 772,
"cds_start": 240,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373950.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887269.1",
"protein_id": "ENSP00000557328.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 771,
"cds_start": 531,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887269.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887205.1",
"protein_id": "ENSP00000557264.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 743,
"cds_start": 531,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887205.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887216.1",
"protein_id": "ENSP00000557275.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 743,
"cds_start": 531,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887216.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887265.1",
"protein_id": "ENSP00000557324.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 743,
"cds_start": 531,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887265.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887270.1",
"protein_id": "ENSP00000557329.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 743,
"cds_start": 531,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887270.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887262.1",
"protein_id": "ENSP00000557321.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 742,
"cds_start": 531,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887262.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424388.1",
"protein_id": "NP_001411317.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 732,
"cds_start": 531,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424388.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424386.1",
"protein_id": "NP_001411315.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 731,
"cds_start": 531,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424386.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424387.1",
"protein_id": "NP_001411316.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 731,
"cds_start": 531,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424387.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887230.1",
"protein_id": "ENSP00000557289.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 731,
"cds_start": 531,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887230.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000941885.1",
"protein_id": "ENSP00000611944.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 731,
"cds_start": 531,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941885.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424385.1",
"protein_id": "NP_001411314.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 730,
"cds_start": 531,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424385.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887204.1",
"protein_id": "ENSP00000557263.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 730,
"cds_start": 531,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887204.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887233.1",
"protein_id": "ENSP00000557292.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 730,
"cds_start": 531,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887233.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887250.1",
"protein_id": "ENSP00000557309.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 730,
"cds_start": 531,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887250.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424384.1",
"protein_id": "NP_001411313.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 716,
"cds_start": 531,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424384.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887232.1",
"protein_id": "ENSP00000557291.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 716,
"cds_start": 531,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887232.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887239.1",
"protein_id": "ENSP00000557298.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 716,
"cds_start": 531,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887239.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424383.1",
"protein_id": "NP_001411312.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424383.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887203.1",
"protein_id": "ENSP00000557262.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887203.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887206.1",
"protein_id": "ENSP00000557265.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887206.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887209.1",
"protein_id": "ENSP00000557268.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887209.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887217.1",
"protein_id": "ENSP00000557276.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887217.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887219.1",
"protein_id": "ENSP00000557278.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887219.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887228.1",
"protein_id": "ENSP00000557287.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887228.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887229.1",
"protein_id": "ENSP00000557288.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887229.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887231.1",
"protein_id": "ENSP00000557290.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887231.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887234.1",
"protein_id": "ENSP00000557293.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887234.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887235.1",
"protein_id": "ENSP00000557294.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887235.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887236.1",
"protein_id": "ENSP00000557295.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887236.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887247.1",
"protein_id": "ENSP00000557306.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 704,
"cds_start": 531,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887247.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "NM_001424382.1",
"protein_id": "NP_001411311.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 703,
"cds_start": 531,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424382.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887208.1",
"protein_id": "ENSP00000557267.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 703,
"cds_start": 531,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887208.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887225.1",
"protein_id": "ENSP00000557284.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 703,
"cds_start": 531,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887225.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887252.1",
"protein_id": "ENSP00000557311.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 703,
"cds_start": 531,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887252.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.438G>T",
"hgvs_p": "p.Pro146Pro",
"transcript": "NM_001258330.1",
"protein_id": "NP_001245259.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 701,
"cds_start": 438,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258330.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.438G>T",
"hgvs_p": "p.Pro146Pro",
"transcript": "ENST00000628415.2",
"protein_id": "ENSP00000487049.2",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 701,
"cds_start": 438,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628415.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424381.1",
"protein_id": "NP_001411310.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 682,
"cds_start": 345,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424381.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000912860.1",
"protein_id": "ENSP00000582919.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 676,
"cds_start": 531,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912860.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887212.1",
"protein_id": "ENSP00000557271.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 675,
"cds_start": 531,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887212.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887267.1",
"protein_id": "ENSP00000557326.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 675,
"cds_start": 531,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887267.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887214.1",
"protein_id": "ENSP00000557273.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 674,
"cds_start": 531,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887214.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887222.1",
"protein_id": "ENSP00000557281.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 674,
"cds_start": 531,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887222.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000912863.1",
"protein_id": "ENSP00000582922.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 674,
"cds_start": 531,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912863.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424380.1",
"protein_id": "NP_001411309.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 670,
"cds_start": 345,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424380.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424405.1",
"protein_id": "NP_001411334.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 670,
"cds_start": 345,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424405.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424378.1",
"protein_id": "NP_001411307.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 669,
"cds_start": 345,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424378.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424379.1",
"protein_id": "NP_001411308.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 669,
"cds_start": 345,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424379.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424404.1",
"protein_id": "NP_001411333.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 669,
"cds_start": 345,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424404.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424377.1",
"protein_id": "NP_001411306.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 668,
"cds_start": 345,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424377.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887257.1",
"protein_id": "ENSP00000557316.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 659,
"cds_start": 531,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887257.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424376.1",
"protein_id": "NP_001411305.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 654,
"cds_start": 345,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424376.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887220.1",
"protein_id": "ENSP00000557279.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 647,
"cds_start": 531,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887220.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887227.1",
"protein_id": "ENSP00000557286.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 647,
"cds_start": 531,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887227.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887249.1",
"protein_id": "ENSP00000557308.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 647,
"cds_start": 531,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887249.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000887268.1",
"protein_id": "ENSP00000557327.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 646,
"cds_start": 531,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887268.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424375.1",
"protein_id": "NP_001411304.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 642,
"cds_start": 345,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424375.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424403.1",
"protein_id": "NP_001411332.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 642,
"cds_start": 345,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424403.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424374.1",
"protein_id": "NP_001411303.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 641,
"cds_start": 345,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424374.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "NM_001424373.1",
"protein_id": "NP_001411302.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 613,
"cds_start": 345,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424373.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "ENST00000430276.5",
"protein_id": "ENSP00000404341.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 256,
"cds_start": 345,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430276.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "ENST00000373945.5",
"protein_id": "ENSP00000363056.1",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 198,
"cds_start": 345,
"cds_end": null,
"cds_length": 599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373945.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "ENST00000452261.5",
"protein_id": "ENSP00000413262.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 187,
"cds_start": 531,
"cds_end": null,
"cds_length": 566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452261.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "XM_047439966.1",
"protein_id": "XP_047295922.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 880,
"cds_start": 531,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439966.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "XM_047439972.1",
"protein_id": "XP_047295928.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 819,
"cds_start": 345,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439972.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "XM_047439973.1",
"protein_id": "XP_047295929.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 819,
"cds_start": 345,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439973.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "XM_047439974.1",
"protein_id": "XP_047295930.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 818,
"cds_start": 345,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439974.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "XM_047439975.1",
"protein_id": "XP_047295931.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 818,
"cds_start": 345,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439975.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "XM_047439976.1",
"protein_id": "XP_047295932.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 812,
"cds_start": 531,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439976.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "XM_047439983.1",
"protein_id": "XP_047295939.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 805,
"cds_start": 345,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439983.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "XM_047439984.1",
"protein_id": "XP_047295940.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 791,
"cds_start": 345,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439984.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "XM_047439985.1",
"protein_id": "XP_047295941.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 791,
"cds_start": 345,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439985.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "XM_047439988.1",
"protein_id": "XP_047295944.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 750,
"cds_start": 345,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439988.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "XM_047439989.1",
"protein_id": "XP_047295945.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 749,
"cds_start": 345,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439989.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro",
"transcript": "XM_011528685.1",
"protein_id": "XP_011526987.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 744,
"cds_start": 531,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528685.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.345G>T",
"hgvs_p": "p.Pro115Pro",
"transcript": "XM_047440009.1",
"protein_id": "XP_047295965.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 612,
"cds_start": 345,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440009.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124904892",
"gene_hgnc_id": null,
"hgvs_c": "n.265-664C>A",
"hgvs_p": null,
"transcript": "XR_007067571.1",
"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": "XR_007067571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"hgvs_c": "c.*27G>T",
"hgvs_p": null,
"transcript": "ENST00000406771.6",
"protein_id": "ENSP00000385244.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406771.6"
}
],
"gene_symbol": "EPB41L1",
"gene_hgnc_id": 3378,
"dbsnp": "rs139137163",
"frequency_reference_population": 0.0014832107,
"hom_count_reference_population": 4,
"allele_count_reference_population": 2394,
"gnomad_exomes_af": 0.00149954,
"gnomad_genomes_af": 0.00132647,
"gnomad_exomes_ac": 2192,
"gnomad_genomes_ac": 202,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.049,
"phylop100way_prediction": "Benign",
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001433605.1",
"gene_symbol": "EPB41L1",
"hgnc_id": 3378,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Pro177Pro"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_007067571.1",
"gene_symbol": "LOC124904892",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.265-664C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}