{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7452120", "communityStandardTitle": [ "NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800589[alleleid]", "alleleId": 800589, "preferredName": "NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812434", "RCV": [ "RCV001003231", "RCV003413796" ], "variationId": 812434 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/15-31327816-C-T", "id": "15-31327816-C-T", "variant": "15:31327816 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.31327816C>T?assembly=hg19", "id": "chr15:g.31327816C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.31035613C>T?assembly=hg38", "id": "chr15:g.31035613C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/765645888", "rs": 765645888 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-31327816-C-T?dataset=gnomad_r2_1", "id": "15-31327816-C-T", "variant": "15:31327816 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-31035613-C-T?dataset=gnomad_r4", "id": "15-31035613-C-T", "variant": "15:31035613 C / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 31035613, "referenceAllele": "C", "start": 31035612 } ], "hgvs": [ "NC_000015.10:g.31035613C>T", "CM000677.2:g.31035613C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 31327816, "referenceAllele": "C", "start": 31327815 } ], "hgvs": [ "NC_000015.9:g.31327816C>T", "CM000677.1:g.31327816C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 29115108, "referenceAllele": "C", "start": 29115107 } ], "hgvs": [ "NC_000015.8:g.29115108C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 71109, "referenceAllele": "G", "start": 71108 } ], "hgvs": [ "NG_016453.1:g.71109G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003196" }, { "coordinates": [ { "allele": "A", "end": 130661, "referenceAllele": "G", "start": 130660 } ], "hgvs": [ "NG_016453.2:g.130661G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2699, "referenceAllele": "G", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000711434.1:c.2567G>A" ], "proteinEffect": { "hgvs": "ENSP00000518752.1:p.Trp856Ter", "hgvsWellDefined": "ENSP00000518752.1:p.Trp856_Cys1609delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspArgLysSerArgIleHisIleTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914798" }, { "coordinates": [ { "allele": "A", "end": 2699, "referenceAllele": "G", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000397795.7:c.2567G>A" ], "proteinEffect": { "hgvs": "ENSP00000380897.2:p.Trp856Ter", "hgvsWellDefined": "ENSP00000380897.2:p.Trp856_Cys1603delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904628" }, { "coordinates": [ { "allele": "A", "end": 2885, "referenceAllele": "G", "start": 2884 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558445.6:c.2684G>A" ], "proteinEffect": { "hgvs": "ENSP00000452946.2:p.Trp895Ter", "hgvsWellDefined": "ENSP00000452946.2:p.Trp895_Cys1642delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905899" }, { "coordinates": [ { "allele": "A", "end": 544, "endIntronDirection": "-", "endIntronOffset": 7136, "referenceAllele": "G", "start": 544, "startIntronDirection": "-", "startIntronOffset": 7137 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000559177.6:c.545-7137G>A" ], "proteinEffect": { "hgvs": "ENSP00000453477.2:n.545-7137G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905904" }, { "coordinates": [ { "allele": "A", "end": 2785, "referenceAllele": "G", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000256552.11:c.2633G>A" ], "proteinEffect": { "hgvs": "ENSP00000256552.7:p.Trp878Ter", "hgvsWellDefined": "ENSP00000256552.7:p.Trp878_Cys1625delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741786", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256552.11:c.2633G>A" }, "RefSeq": { "hgvs": "NM_001252024.2:c.2633G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256552.7:p.Trp878Ter" }, "RefSeq": { "hgvs": "NP_001238953.1:p.Trp878Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2781, "referenceAllele": "G", "start": 2780 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000256552.10:c.2633G>A" ], "proteinEffect": { "hgvs": "ENSP00000256552.6:p.Trp878Ter", "hgvsWellDefined": "ENSP00000256552.6:p.Trp878_Cys1625delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250190" }, { "coordinates": [ { "allele": "A", "end": 2681, "referenceAllele": "G", "start": 2680 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000397795.6:c.2567G>A" ], "proteinEffect": { "hgvs": "ENSP00000380897.2:p.Trp856Ter", "hgvsWellDefined": "ENSP00000380897.2:p.Trp856_Cys1603delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277983" }, { "coordinates": [ { "allele": "A", "end": 2998, "referenceAllele": "G", "start": 2997 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000542188.5:c.2684G>A" ], "proteinEffect": { "hgvs": "ENSP00000437849.1:p.Trp895Ter", "hgvsWellDefined": "ENSP00000437849.1:p.Trp895_Cys1642delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363321" }, { "coordinates": [ { "allele": "A", "end": 2679, "referenceAllele": "G", "start": 2678 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558445.5:c.2567G>A" ], "proteinEffect": { "hgvs": "ENSP00000452946.1:p.Trp856Ter", "hgvsWellDefined": "ENSP00000452946.1:p.Trp856_Gln1390del" }, "referenceSequence": "http://reg.genome.network/refseq/RS373798" }, { "coordinates": [ { "allele": "A", "end": 2336, "referenceAllele": "G", "start": 2335 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558768.5:c.2336G>A" ], "proteinEffect": { "hgvs": "ENSP00000453119.2:p.Trp779Ter", "hgvsWellDefined": "ENSP00000453119.2:p.Trp779_Cys1526delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374053" }, { "coordinates": [ { "allele": "A", "end": 539, "endIntronDirection": "-", "endIntronOffset": 7136, "referenceAllele": "G", "start": 539, "startIntronDirection": "-", "startIntronOffset": 7137 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000559177.5:c.428-7137G>A" ], "proteinEffect": { "hgvs": "ENSP00000453477.1:n.428-7137G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS374378" }, { "coordinates": [ { "allele": "A", "end": 2384, "referenceAllele": "G", "start": 2383 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000560801.5:c.2384G>A" ], "proteinEffect": { "hgvs": "ENSP00000453644.2:n.2384G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS375624" }, { "@id": "http://reg.genome.network/allele/PA916008308", "coordinates": [ { "allele": "A", "end": 2998, "referenceAllele": "G", "start": 2997 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252020.1:c.2684G>A" ], "proteinEffect": { "hgvs": "NP_001238949.1:p.Trp895Ter", "hgvsWellDefined": "NP_001238949.1:p.Trp895_Cys1642delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018833" }, { "@id": "http://reg.genome.network/allele/PA2826346837", "coordinates": [ { "allele": "A", "end": 2786, "referenceAllele": "G", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252024.1:c.2633G>A" ], "proteinEffect": { "hgvs": "NP_001238953.1:p.Trp878Ter", "hgvsWellDefined": "NP_001238953.1:p.Trp878_Cys1625delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018836" }, { "@id": "http://reg.genome.network/allele/PA2829354849", "coordinates": [ { "allele": "A", "end": 2700, "referenceAllele": "G", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_002420.5:c.2567G>A" ], "proteinEffect": { "hgvs": "NP_002411.3:p.Trp856Ter", "hgvsWellDefined": "NP_002411.3:p.Trp856_Cys1603delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027725" }, { "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "C", "start": 303 } ], "hgvs": [ "XR_932055.1:n.304C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128099" }, { "coordinates": [ { "allele": "T", "end": 133, "referenceAllele": "C", "start": 132 } ], "hgvs": [ "XR_932056.1:n.133C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128100" }, { "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "C", "start": 303 } ], "hgvs": [ "XR_932057.1:n.304C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128101" }, { "coordinates": [ { "allele": "T", "end": 88, "endIntronDirection": "-", "endIntronOffset": 139, "referenceAllele": "C", "start": 88, "startIntronDirection": "-", "startIntronOffset": 140 } ], "hgvs": [ "XR_932058.1:n.89-140C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128102" }, { "coordinates": [ { "allele": "T", "end": 278, "endIntronDirection": "-", "endIntronOffset": 139, "referenceAllele": "C", "start": 278, "startIntronDirection": "-", "startIntronOffset": 140 } ], "hgvs": [ "XR_001751769.1:n.279-140C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598589" }, { "@id": "http://reg.genome.network/allele/PA2826346837", "coordinates": [ { "allele": "A", "end": 2785, "referenceAllele": "G", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252024.2:c.2633G>A" ], "proteinEffect": { "hgvs": "NP_001238953.1:p.Trp878Ter", "hgvsWellDefined": "NP_001238953.1:p.Trp878_Cys1625delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680376", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256552.11:c.2633G>A" }, "RefSeq": { "hgvs": "NM_001252024.2:c.2633G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256552.7:p.Trp878Ter" }, "RefSeq": { "hgvs": "NP_001238953.1:p.Trp878Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829354849", "coordinates": [ { "allele": "A", "end": 2699, "referenceAllele": "G", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_002420.6:c.2567G>A" ], "proteinEffect": { "hgvs": "NP_002411.3:p.Trp856Ter", "hgvsWellDefined": "NP_002411.3:p.Trp856_Cys1603delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695542" }, { "@id": "http://reg.genome.network/allele/PA916008308", "coordinates": [ { "allele": "A", "end": 2885, "referenceAllele": "G", "start": 2884 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252020.2:c.2684G>A" ], "proteinEffect": { "hgvs": "NP_001238949.1:p.Trp895Ter", "hgvsWellDefined": "NP_001238949.1:p.Trp895_Cys1642delinsProSerLeuGlnGluTrpIleValIleSerTyrIleValSerLeuAlaLeuGluLysIleArgGluIleLeuMetSerGluProGlyLysLeuSerGlnLysIleLysValTrpLeuGlnGluTyrTrpAsnIleThrAspLeuValAlaIleSerThrPheMetIleGlyAlaIleLeuArgLeuGlnAsnGlnProTyrMetGlyTyrGlyArgValIleTyrCysValAspIleIlePheTrpTyrIleArgValLeuAspIlePheGlyValAsnLysTyrLeuGlyProTyrValMetMetIleGlyLysMetMetIleAspMetLeuTyrPheValValIleMetLeuValValLeuMetSerPheGlyValAlaArgGlnAlaIleLeuHisProGluGluLysProSerTrpLysLeuAlaArgAsnIlePheTyrMetProTyrTrpMetIleTyrGlyGluValPheAlaAspGlnIleAspLeuTyrAlaMetGluIleAsnProProCysGlyGluAsnLeuTyrAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714610" } ], "type": "nucleotide" }