← 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: 5-138924556-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138924556&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"PP3_Moderate",
"BP6",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CTNNA1",
"hgnc_id": 2509,
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": -7,
"transcript": "NM_001903.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP3_Moderate,BP6,BS1,BS2",
"acmg_score": -7,
"allele_count_reference_population": 71,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "5",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Hereditary diffuse gastric adenocarcinoma,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001903.5",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000302763.12",
"protein_coding": true,
"protein_id": "NP_001894.2",
"strand": true,
"transcript": "NM_001903.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000302763.12",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001903.5",
"protein_coding": true,
"protein_id": "ENSP00000304669.7",
"strand": true,
"transcript": "ENST00000302763.12",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 841,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3536,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000518825.5",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427821.1",
"strand": true,
"transcript": "ENST00000518825.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000540387.5",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438476.1",
"strand": true,
"transcript": "ENST00000540387.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 959,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 2880,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000965845.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635904.1",
"strand": true,
"transcript": "ENST00000965845.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 954,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3878,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 2865,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000930310.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600369.1",
"strand": true,
"transcript": "ENST00000930310.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4224,
"cdna_start": 2151,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001323982.2",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310911.1",
"strand": true,
"transcript": "NM_001323982.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3945,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001323983.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310912.1",
"strand": true,
"transcript": "NM_001323983.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 1699,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001323984.2",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310913.1",
"strand": true,
"transcript": "NM_001323984.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889697.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559756.1",
"strand": true,
"transcript": "ENST00000889697.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3854,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889698.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559757.1",
"strand": true,
"transcript": "ENST00000889698.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4215,
"cdna_start": 2142,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889703.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559762.1",
"strand": true,
"transcript": "ENST00000889703.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889706.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559765.1",
"strand": true,
"transcript": "ENST00000889706.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3855,
"cdna_start": 1784,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889707.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559766.1",
"strand": true,
"transcript": "ENST00000889707.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3813,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889708.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559767.1",
"strand": true,
"transcript": "ENST00000889708.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4290,
"cdna_start": 2221,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889709.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559768.1",
"strand": true,
"transcript": "ENST00000889709.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4220,
"cdna_start": 2151,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889710.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559769.1",
"strand": true,
"transcript": "ENST00000889710.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000889712.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559771.1",
"strand": true,
"transcript": "ENST00000889712.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889714.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559773.1",
"strand": true,
"transcript": "ENST00000889714.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3566,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889715.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559774.1",
"strand": true,
"transcript": "ENST00000889715.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889716.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559775.1",
"strand": true,
"transcript": "ENST00000889716.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000889718.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559777.1",
"strand": true,
"transcript": "ENST00000889718.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3816,
"cdna_start": 1746,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000930309.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600368.1",
"strand": true,
"transcript": "ENST00000930309.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3846,
"cdna_start": 1778,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000930311.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600370.1",
"strand": true,
"transcript": "ENST00000930311.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000930312.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600371.1",
"strand": true,
"transcript": "ENST00000930312.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5189,
"cdna_start": 3116,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000930313.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600372.1",
"strand": true,
"transcript": "ENST00000930313.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3856,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000930314.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600373.1",
"strand": true,
"transcript": "ENST00000930314.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3911,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965847.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635906.1",
"strand": true,
"transcript": "ENST00000965847.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4014,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965848.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635907.1",
"strand": true,
"transcript": "ENST00000965848.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4472,
"cdna_start": 2400,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965850.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635909.1",
"strand": true,
"transcript": "ENST00000965850.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965851.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635910.1",
"strand": true,
"transcript": "ENST00000965851.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965854.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635913.1",
"strand": true,
"transcript": "ENST00000965854.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4148,
"cdna_start": 2077,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965855.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635914.1",
"strand": true,
"transcript": "ENST00000965855.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4236,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965856.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635915.1",
"strand": true,
"transcript": "ENST00000965856.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": 2088,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965857.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635916.1",
"strand": true,
"transcript": "ENST00000965857.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3878,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965858.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635917.1",
"strand": true,
"transcript": "ENST00000965858.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3567,
"cdna_start": 1819,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965859.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635918.1",
"strand": true,
"transcript": "ENST00000965859.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965860.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635919.1",
"strand": true,
"transcript": "ENST00000965860.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4040,
"cdna_start": 2291,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965862.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635921.1",
"strand": true,
"transcript": "ENST00000965862.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4023,
"cdna_start": 2275,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965863.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635922.1",
"strand": true,
"transcript": "ENST00000965863.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 901,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3775,
"cdna_start": 1721,
"cds_end": null,
"cds_length": 2706,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000965846.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635905.1",
"strand": true,
"transcript": "ENST00000965846.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 898,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3728,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 2697,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000965849.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635908.1",
"strand": true,
"transcript": "ENST00000965849.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 897,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 2694,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001323985.2",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310914.1",
"strand": true,
"transcript": "NM_001323985.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 897,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": 1702,
"cds_end": null,
"cds_length": 2694,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000889699.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559758.1",
"strand": true,
"transcript": "ENST00000889699.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 897,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 1784,
"cds_end": null,
"cds_length": 2694,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000965853.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635912.1",
"strand": true,
"transcript": "ENST00000965853.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 883,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3659,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 2652,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000965852.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635911.1",
"strand": true,
"transcript": "ENST00000965852.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 875,
"aa_ref": "Q",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1500,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001323986.2",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1500A>G",
"hgvs_p": "p.Gln500Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310915.1",
"strand": true,
"transcript": "NM_001323986.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 875,
"aa_ref": "Q",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1500,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000889701.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1500A>G",
"hgvs_p": "p.Gln500Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559760.1",
"strand": true,
"transcript": "ENST00000889701.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 869,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 2610,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000889704.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559763.1",
"strand": true,
"transcript": "ENST00000889704.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 866,
"aa_ref": "Q",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3272,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 2601,
"cds_start": 1500,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000965861.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1500A>G",
"hgvs_p": "p.Gln500Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635920.1",
"strand": true,
"transcript": "ENST00000965861.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 853,
"aa_ref": "Q",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3316,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 2562,
"cds_start": 1434,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000889711.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1434A>G",
"hgvs_p": "p.Gln478Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559770.1",
"strand": true,
"transcript": "ENST00000889711.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 841,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001290307.3",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277236.1",
"strand": true,
"transcript": "NM_001290307.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 841,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3831,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000627109.2",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1593A>G",
"hgvs_p": "p.Gln531Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486200.1",
"strand": true,
"transcript": "ENST00000627109.2",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 828,
"aa_ref": "Q",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 2487,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000889700.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1359A>G",
"hgvs_p": "p.Gln453Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559759.1",
"strand": true,
"transcript": "ENST00000889700.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 803,
"aa_ref": "Q",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3558,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1284,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001290309.3",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1284A>G",
"hgvs_p": "p.Gln428Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277238.1",
"strand": true,
"transcript": "NM_001290309.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 797,
"aa_ref": "Q",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3107,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 2394,
"cds_start": 1266,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889713.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1266A>G",
"hgvs_p": "p.Gln422Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559772.1",
"strand": true,
"transcript": "ENST00000889713.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 783,
"aa_ref": "Q",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3591,
"cdna_start": 1518,
"cds_end": null,
"cds_length": 2352,
"cds_start": 1224,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001290310.3",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1224A>G",
"hgvs_p": "p.Gln408Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277239.1",
"strand": true,
"transcript": "NM_001290310.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 667,
"aa_ref": "Q",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 963,
"cds_end": null,
"cds_length": 2004,
"cds_start": 876,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000889702.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.876A>G",
"hgvs_p": "p.Gln292Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559761.1",
"strand": true,
"transcript": "ENST00000889702.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001290312.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277241.1",
"strand": true,
"transcript": "NM_001290312.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001323987.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310916.1",
"strand": true,
"transcript": "NM_001323987.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323988.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310917.1",
"strand": true,
"transcript": "NM_001323988.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2898,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001323989.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310918.1",
"strand": true,
"transcript": "NM_001323989.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001323990.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310919.1",
"strand": true,
"transcript": "NM_001323990.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001323991.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310920.1",
"strand": true,
"transcript": "NM_001323991.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323992.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310921.1",
"strand": true,
"transcript": "NM_001323992.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3356,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323993.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310922.1",
"strand": true,
"transcript": "NM_001323993.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2811,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001323994.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310923.1",
"strand": true,
"transcript": "NM_001323994.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323995.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310924.1",
"strand": true,
"transcript": "NM_001323995.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3361,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323996.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310925.1",
"strand": true,
"transcript": "NM_001323996.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323997.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310926.1",
"strand": true,
"transcript": "NM_001323997.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323998.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310927.1",
"strand": true,
"transcript": "NM_001323998.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3334,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323999.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310928.1",
"strand": true,
"transcript": "NM_001323999.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 1611,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001324000.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310929.1",
"strand": true,
"transcript": "NM_001324000.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 505,
"aa_ref": "Q",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1518,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001324011.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.390A>G",
"hgvs_p": "p.Gln130Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310940.1",
"strand": true,
"transcript": "NM_001324011.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 491,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 1476,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001324001.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310930.1",
"strand": true,
"transcript": "NM_001324001.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 471,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 1416,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001324002.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310931.1",
"strand": true,
"transcript": "NM_001324002.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 471,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3333,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1416,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001324003.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310932.1",
"strand": true,
"transcript": "NM_001324003.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 471,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1416,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001324004.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310933.1",
"strand": true,
"transcript": "NM_001324004.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 471,
"aa_ref": "Q",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1416,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001324005.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gln161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310934.1",
"strand": true,
"transcript": "NM_001324005.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 455,
"aa_ref": "Q",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1368,
"cds_start": 240,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324012.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.240A>G",
"hgvs_p": "p.Gln80Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310941.1",
"strand": true,
"transcript": "NM_001324012.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 455,
"aa_ref": "Q",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1368,
"cds_start": 240,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001324013.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.240A>G",
"hgvs_p": "p.Gln80Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310942.1",
"strand": true,
"transcript": "NM_001324013.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 423,
"aa_ref": "Q",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3084,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1272,
"cds_start": 144,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001324006.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Gln48Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310935.1",
"strand": true,
"transcript": "NM_001324006.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 423,
"aa_ref": "Q",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 1272,
"cds_start": 144,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001324007.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Gln48Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310936.1",
"strand": true,
"transcript": "NM_001324007.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 423,
"aa_ref": "Q",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1272,
"cds_start": 144,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001324008.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Gln48Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310937.1",
"strand": true,
"transcript": "NM_001324008.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 423,
"aa_ref": "Q",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1272,
"cds_start": 144,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001324009.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Gln48Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310938.1",
"strand": true,
"transcript": "NM_001324009.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 423,
"aa_ref": "Q",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": 402,
"cds_end": null,
"cds_length": 1272,
"cds_start": 144,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001324010.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.144A>G",
"hgvs_p": "p.Gln48Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310939.1",
"strand": true,
"transcript": "NM_001324010.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 705,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": null,
"cds_end": null,
"cds_length": 2118,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889717.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1297-4690A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559776.1",
"strand": true,
"transcript": "ENST00000889717.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 692,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": null,
"cds_end": null,
"cds_length": 2079,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889705.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "c.1337-4769A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559764.1",
"strand": true,
"transcript": "ENST00000889705.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 544,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000521368.5",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "n.*23A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428686.1",
"strand": true,
"transcript": "ENST00000521368.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 871,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000521387.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "n.27A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000521387.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000521724.5",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "n.*1283A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431033.1",
"strand": true,
"transcript": "ENST00000521724.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 544,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000521368.5",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "n.*23A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428686.1",
"strand": true,
"transcript": "ENST00000521368.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000521724.5",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "n.*1283A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431033.1",
"strand": true,
"transcript": "ENST00000521724.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 358,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519489.1",
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"hgvs_c": "n.-33A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000519489.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200279871",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000439854,
"gene_hgnc_id": 2509,
"gene_symbol": "CTNNA1",
"gnomad_exomes_ac": 63,
"gnomad_exomes_af": 0.0000430948,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 8,
"gnomad_genomes_af": 0.0000525348,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not provided|Hereditary cancer-predisposing syndrome|Hereditary diffuse gastric adenocarcinoma",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.419,
"pos": 138924556,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.8299999833106995,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Pathogenic",
"spliceai_max_score": 0.83,
"transcript": "NM_001903.5"
}
]
}