{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7659622", "communityStandardTitle": [ "NM_001319217.2(CYP1A1):c.134G>A (p.Gly45Asp)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3678285", "active": true, "id": "COSM3678285" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3200475[alleleid]", "alleleId": 3200475, "preferredName": "NM_001319217.2(CYP1A1):c.134G>A (p.Gly45Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3058859", "RCV": [ "RCV003979497" ], "variationId": 3058859 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-75015305-C-T", "id": "15-75015305-C-T", "variant": "15:75015305 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75015305C>T?assembly=hg19", "id": "chr15:g.75015305C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.74722964C>T?assembly=hg38", "id": "chr15:g.74722964C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/4646422", "rs": 4646422 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-75015305-C-T?dataset=gnomad_r2_1", "id": "15-75015305-C-T", "variant": "15:75015305 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-74722964-C-T?dataset=gnomad_r3", "id": "15-74722964-C-T", "variant": "15:74722964 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-74722964-C-T?dataset=gnomad_r4", "id": "15-74722964-C-T", "variant": "15:74722964 C / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 74722964, "referenceAllele": "C", "start": 74722963 } ], "hgvs": [ "NC_000015.10:g.74722964C>T", "CM000677.2:g.74722964C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 75015305, "referenceAllele": "C", "start": 75015304 } ], "hgvs": [ "NC_000015.9:g.75015305C>T", "CM000677.1:g.75015305C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 72802358, "referenceAllele": "C", "start": 72802357 } ], "hgvs": [ "NC_000015.8:g.72802358C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 5423, "referenceAllele": "C", "start": 5422 } ], "hgvs": [ "NG_008431.1:g.5423C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001094" }, { "coordinates": [ { "allele": "T", "end": 5423, "referenceAllele": "C", "start": 5422 } ], "hgvs": [ "NG_008431.2:g.5423C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616105" }, { "coordinates": [ { "allele": "A", "end": 7565, "referenceAllele": "G", "start": 7564 } ], "hgvs": [ "NG_061374.1:g.7565G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617600" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 251, "referenceAllele": "G", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "ENST00000379727.8:c.134G>A" ], "proteinEffect": { "hgvs": "ENSP00000369050.3:p.Gly45Asp", "hgvsWellDefined": "ENSP00000369050.3:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS752275", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000379727.8:c.134G>A" }, "RefSeq": { "hgvs": "NM_001319217.2:c.134G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369050.3:p.Gly45Asp" }, "RefSeq": { "hgvs": "NP_001306146.1:p.Gly45Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 333, "referenceAllele": "G", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "ENST00000379727.7:c.134G>A" ], "proteinEffect": { "hgvs": "ENSP00000369050.3:p.Gly45Asp", "hgvsWellDefined": "ENSP00000369050.3:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS272624" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "ENST00000395048.6:c.134G>A" ], "proteinEffect": { "hgvs": "ENSP00000378488.2:p.Gly45Asp", "hgvsWellDefined": "ENSP00000378488.2:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS276488" }, { "coordinates": [ { "allele": "A", "end": 217, "referenceAllele": "G", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "ENST00000395049.8:c.134G>A" ], "proteinEffect": { "hgvs": "ENSP00000378489.4:p.Gly45Asp", "hgvsWellDefined": "ENSP00000378489.4:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS276489" }, { "coordinates": [ { "allele": "A", "end": 211, "referenceAllele": "G", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "ENST00000562201.5:c.134G>A" ], "proteinEffect": { "hgvs": "ENSP00000455340.1:p.Gly45Asp", "hgvsWellDefined": "ENSP00000455340.1:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS376632" }, { "coordinates": [ { "allele": "A", "end": 51, "endIntronDirection": "-", "endIntronOffset": 429, "referenceAllele": "G", "start": 51, "startIntronDirection": "-", "startIntronOffset": 430 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "ENST00000564596.5:c.-220-430G>A" ], "proteinEffect": { "hgvs": "ENSP00000457668.1:n.-220-430G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS378195" }, { "coordinates": [ { "allele": "A", "end": 51, "endIntronDirection": "-", "endIntronOffset": 429, "referenceAllele": "G", "start": 51, "startIntronDirection": "-", "startIntronOffset": 430 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "ENST00000566503.1:c.-220-430G>A" ], "proteinEffect": { "hgvs": "ENSP00000455846.1:n.-220-430G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS379487" }, { "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "ENST00000567032.5:c.134G>A" ], "proteinEffect": { "hgvs": "ENSP00000456585.1:p.Gly45Asp", "hgvsWellDefined": "ENSP00000456585.1:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS379847" }, { "coordinates": [ { "allele": "A", "end": 211, "referenceAllele": "G", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "ENST00000569630.5:c.134G>A" ], "proteinEffect": { "hgvs": "ENSP00000455051.1:p.Gly45Asp", "hgvsWellDefined": "ENSP00000455051.1:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS381603" }, { "coordinates": [ { "allele": "A", "end": 134, "referenceAllele": "G", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "ENST00000612821.4:c.134G>A" ], "proteinEffect": { "hgvs": "ENSP00000479744.1:p.Gly45Asp", "hgvsWellDefined": "ENSP00000479744.1:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS401472" }, { "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "ENST00000617691.4:c.134G>A" ], "proteinEffect": { "hgvs": "ENSP00000482863.1:p.Gly45Asp", "hgvsWellDefined": "ENSP00000482863.1:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS403586" }, { "@id": "http://reg.genome.network/allele/PA2825202026", "coordinates": [ { "allele": "A", "end": 256, "referenceAllele": "G", "start": 255 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "NM_000499.3:c.134G>A" ], "proteinEffect": { "hgvs": "NP_000490.1:p.Gly45Asp", "hgvsWellDefined": "NP_000490.1:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS006553" }, { "coordinates": [ { "allele": "A", "end": 333, "referenceAllele": "G", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "XM_005254185.1:c.134G>A" ], "proteinEffect": { "hgvs": "XP_005254242.1:p.Gly45Asp", "hgvsWellDefined": "XP_005254242.1:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS060543" }, { "@id": "http://reg.genome.network/allele/PA2825202026", "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "NM_000499.5:c.134G>A" ], "proteinEffect": { "hgvs": "NP_000490.1:p.Gly45Asp", "hgvsWellDefined": "NP_000490.1:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS510803" }, { "@id": "http://reg.genome.network/allele/PA2827034879", "coordinates": [ { "allele": "A", "end": 251, "referenceAllele": "G", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "NM_001319216.2:c.134G>A" ], "proteinEffect": { "hgvs": "NP_001306145.1:p.Gly45Asp", "hgvsWellDefined": "NP_001306145.1:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS513314" }, { "@id": "http://reg.genome.network/allele/PA2741862931", "coordinates": [ { "allele": "A", "end": 251, "referenceAllele": "G", "start": 250 } ], "gene": "http://reg.genome.network/gene/GN002595", "geneNCBI_id": 1543, "geneSymbol": "CYP1A1", "hgvs": [ "NM_001319217.2:c.134G>A" ], "proteinEffect": { "hgvs": "NP_001306146.1:p.Gly45Asp", "hgvsWellDefined": "NP_001306146.1:p.Gly45Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS513315", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000379727.8:c.134G>A" }, "RefSeq": { "hgvs": "NM_001319217.2:c.134G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000369050.3:p.Gly45Asp" }, "RefSeq": { "hgvs": "NP_001306146.1:p.Gly45Asp" } } } } ], "type": "nucleotide" }