← 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: 5-138932619-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138932619&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 138932619,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001903.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "NM_001903.5",
"protein_id": "NP_001894.2",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "ENST00000302763.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001903.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000302763.12",
"protein_id": "ENSP00000304669.7",
"transcript_support_level": 1,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "NM_001903.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302763.12"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000518825.5",
"protein_id": "ENSP00000427821.1",
"transcript_support_level": 1,
"aa_start": 780,
"aa_end": null,
"aa_length": 841,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2342,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518825.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "ENST00000540387.5",
"protein_id": "ENSP00000438476.1",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540387.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2499G>A",
"hgvs_p": "p.Leu833Leu",
"transcript": "ENST00000965845.1",
"protein_id": "ENSP00000635904.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 959,
"cds_start": 2499,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2621,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965845.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2484G>A",
"hgvs_p": "p.Leu828Leu",
"transcript": "ENST00000930310.1",
"protein_id": "ENSP00000600369.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 954,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930310.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "NM_001323982.2",
"protein_id": "NP_001310911.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2898,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323982.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "NM_001323983.1",
"protein_id": "NP_001310912.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2619,
"cdna_end": null,
"cdna_length": 3945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323983.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "NM_001323984.2",
"protein_id": "NP_001310913.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323984.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889697.1",
"protein_id": "ENSP00000559756.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889697.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889698.1",
"protein_id": "ENSP00000559757.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2528,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889698.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889703.1",
"protein_id": "ENSP00000559762.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2889,
"cdna_end": null,
"cdna_length": 4215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889703.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889706.1",
"protein_id": "ENSP00000559765.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2459,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889706.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889707.1",
"protein_id": "ENSP00000559766.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2531,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889707.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889708.1",
"protein_id": "ENSP00000559767.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2491,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889708.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889709.1",
"protein_id": "ENSP00000559768.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2968,
"cdna_end": null,
"cdna_length": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889709.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889710.1",
"protein_id": "ENSP00000559769.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2898,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889710.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889712.1",
"protein_id": "ENSP00000559771.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2727,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889712.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889714.1",
"protein_id": "ENSP00000559773.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889714.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889715.1",
"protein_id": "ENSP00000559774.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2564,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889715.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889716.1",
"protein_id": "ENSP00000559775.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889716.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889718.1",
"protein_id": "ENSP00000559777.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889718.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000930309.1",
"protein_id": "ENSP00000600368.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930309.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000930311.1",
"protein_id": "ENSP00000600370.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930311.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000930312.1",
"protein_id": "ENSP00000600371.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930312.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000930313.1",
"protein_id": "ENSP00000600372.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 3863,
"cdna_end": null,
"cdna_length": 5189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930313.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000930314.1",
"protein_id": "ENSP00000600373.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930314.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965847.1",
"protein_id": "ENSP00000635906.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 3911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965847.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965848.1",
"protein_id": "ENSP00000635907.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965848.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965850.1",
"protein_id": "ENSP00000635909.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 3147,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965850.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965851.1",
"protein_id": "ENSP00000635910.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2506,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965851.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965854.1",
"protein_id": "ENSP00000635913.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965854.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965855.1",
"protein_id": "ENSP00000635914.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2824,
"cdna_end": null,
"cdna_length": 4148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965855.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965856.1",
"protein_id": "ENSP00000635915.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2916,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965856.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965857.1",
"protein_id": "ENSP00000635916.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2835,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965857.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965858.1",
"protein_id": "ENSP00000635917.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2877,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965858.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965859.1",
"protein_id": "ENSP00000635918.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2566,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965859.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965860.1",
"protein_id": "ENSP00000635919.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965860.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965862.1",
"protein_id": "ENSP00000635921.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 3038,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965862.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965863.1",
"protein_id": "ENSP00000635922.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 906,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965863.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2325G>A",
"hgvs_p": "p.Leu775Leu",
"transcript": "ENST00000965846.1",
"protein_id": "ENSP00000635905.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 901,
"cds_start": 2325,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965846.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2316G>A",
"hgvs_p": "p.Leu772Leu",
"transcript": "ENST00000965849.1",
"protein_id": "ENSP00000635908.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 898,
"cds_start": 2316,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965849.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "NM_001323985.2",
"protein_id": "NP_001310914.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 897,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323985.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000889699.1",
"protein_id": "ENSP00000559758.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 897,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889699.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000965853.1",
"protein_id": "ENSP00000635912.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 897,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2531,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965853.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2247G>A",
"hgvs_p": "p.Leu749Leu",
"transcript": "NM_001323986.2",
"protein_id": "NP_001310915.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 875,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323986.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2247G>A",
"hgvs_p": "p.Leu749Leu",
"transcript": "ENST00000889701.1",
"protein_id": "ENSP00000559760.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 875,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889701.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2229G>A",
"hgvs_p": "p.Leu743Leu",
"transcript": "ENST00000889704.1",
"protein_id": "ENSP00000559763.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 869,
"cds_start": 2229,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 2309,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889704.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2247G>A",
"hgvs_p": "p.Leu749Leu",
"transcript": "ENST00000965861.1",
"protein_id": "ENSP00000635920.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 866,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965861.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2181G>A",
"hgvs_p": "p.Leu727Leu",
"transcript": "ENST00000889711.1",
"protein_id": "ENSP00000559770.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 853,
"cds_start": 2181,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889711.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "NM_001290307.3",
"protein_id": "NP_001277236.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 841,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290307.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu",
"transcript": "ENST00000627109.2",
"protein_id": "ENSP00000486200.1",
"transcript_support_level": 5,
"aa_start": 780,
"aa_end": null,
"aa_length": 841,
"cds_start": 2340,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2435,
"cdna_end": null,
"cdna_length": 3831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627109.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2106G>A",
"hgvs_p": "p.Leu702Leu",
"transcript": "ENST00000889700.1",
"protein_id": "ENSP00000559759.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 828,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2204,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889700.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2031G>A",
"hgvs_p": "p.Leu677Leu",
"transcript": "NM_001290309.3",
"protein_id": "NP_001277238.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 803,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290309.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2013G>A",
"hgvs_p": "p.Leu671Leu",
"transcript": "ENST00000889713.1",
"protein_id": "ENSP00000559772.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 797,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889713.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1971G>A",
"hgvs_p": "p.Leu657Leu",
"transcript": "NM_001290310.3",
"protein_id": "NP_001277239.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 783,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290310.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1737G>A",
"hgvs_p": "p.Leu579Leu",
"transcript": "ENST00000889717.1",
"protein_id": "ENSP00000559776.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 705,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889717.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1698G>A",
"hgvs_p": "p.Leu566Leu",
"transcript": "ENST00000889705.1",
"protein_id": "ENSP00000559764.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 692,
"cds_start": 1698,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 3100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889705.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1623G>A",
"hgvs_p": "p.Leu541Leu",
"transcript": "ENST00000889702.1",
"protein_id": "ENSP00000559761.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 667,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889702.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001290312.1",
"protein_id": "NP_001277241.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290312.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323987.1",
"protein_id": "NP_001310916.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323987.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323988.1",
"protein_id": "NP_001310917.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323988.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323989.1",
"protein_id": "NP_001310918.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 2898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323989.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323990.1",
"protein_id": "NP_001310919.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323990.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323991.1",
"protein_id": "NP_001310920.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323991.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323992.1",
"protein_id": "NP_001310921.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323992.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323993.1",
"protein_id": "NP_001310922.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323993.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323994.1",
"protein_id": "NP_001310923.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323994.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323995.1",
"protein_id": "NP_001310924.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323995.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323996.1",
"protein_id": "NP_001310925.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323996.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323997.1",
"protein_id": "NP_001310926.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323997.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323998.1",
"protein_id": "NP_001310927.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323998.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001323999.1",
"protein_id": "NP_001310928.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2008,
"cdna_end": null,
"cdna_length": 3334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323999.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001324000.1",
"protein_id": "NP_001310929.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 536,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324000.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1137G>A",
"hgvs_p": "p.Leu379Leu",
"transcript": "NM_001324011.1",
"protein_id": "NP_001310940.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 505,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324011.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001324002.1",
"protein_id": "NP_001310931.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 471,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324002.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001324003.1",
"protein_id": "NP_001310932.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 471,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 3333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324003.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001324004.1",
"protein_id": "NP_001310933.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 471,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324004.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Leu410Leu",
"transcript": "NM_001324005.1",
"protein_id": "NP_001310934.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 471,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324005.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Leu329Leu",
"transcript": "NM_001324012.1",
"protein_id": "NP_001310941.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 455,
"cds_start": 987,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324012.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Leu329Leu",
"transcript": "NM_001324013.1",
"protein_id": "NP_001310942.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 455,
"cds_start": 987,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324013.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.891G>A",
"hgvs_p": "p.Leu297Leu",
"transcript": "NM_001324006.1",
"protein_id": "NP_001310935.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 423,
"cds_start": 891,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324006.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.891G>A",
"hgvs_p": "p.Leu297Leu",
"transcript": "NM_001324007.1",
"protein_id": "NP_001310936.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 423,
"cds_start": 891,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324007.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.891G>A",
"hgvs_p": "p.Leu297Leu",
"transcript": "NM_001324008.1",
"protein_id": "NP_001310937.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 423,
"cds_start": 891,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324008.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.891G>A",
"hgvs_p": "p.Leu297Leu",
"transcript": "NM_001324009.1",
"protein_id": "NP_001310938.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 423,
"cds_start": 891,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324009.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.891G>A",
"hgvs_p": "p.Leu297Leu",
"transcript": "NM_001324010.1",
"protein_id": "NP_001310939.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 423,
"cds_start": 891,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324010.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.2299-28G>A",
"hgvs_p": null,
"transcript": "ENST00000965852.1",
"protein_id": "ENSP00000635911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 883,
"cds_start": null,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.1189-1183G>A",
"hgvs_p": null,
"transcript": "NM_001324001.1",
"protein_id": "NP_001310930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": null,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324001.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "c.124-1183G>A",
"hgvs_p": null,
"transcript": "ENST00000520520.1",
"protein_id": "ENSP00000430076.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520520.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "n.*2030G>A",
"hgvs_p": null,
"transcript": "ENST00000521724.5",
"protein_id": "ENSP00000431033.1",
"transcript_support_level": 2,
"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": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521724.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "n.719G>A",
"hgvs_p": null,
"transcript": "ENST00000522792.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000522792.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"hgvs_c": "n.*2030G>A",
"hgvs_p": null,
"transcript": "ENST00000521724.5",
"protein_id": "ENSP00000431033.1",
"transcript_support_level": 2,
"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": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521724.5"
}
],
"gene_symbol": "CTNNA1",
"gene_hgnc_id": 2509,
"dbsnp": "rs1060504517",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"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": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.806,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 11,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001903.5",
"gene_symbol": "CTNNA1",
"hgnc_id": 2509,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2340G>A",
"hgvs_p": "p.Leu780Leu"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Hereditary diffuse gastric adenocarcinoma,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not provided|Hereditary diffuse gastric adenocarcinoma|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}