{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA118065", "communityStandardTitle": [ "NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21264[alleleid]", "alleleId": 21264, "preferredName": "NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6225", "RCV": [ "RCV000006603", "RCV003555943" ], "variationId": 6225 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.31320657A>T?assembly=hg19", "id": "chr15:g.31320657A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.31028454A>T?assembly=hg38", "id": "chr15:g.31028454A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267607140", "rs": 267607140 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-31028454-A-T?dataset=gnomad_r4", "id": "15-31028454-A-T", "variant": "15:31028454 A / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 31028454, "referenceAllele": "A", "start": 31028453 } ], "hgvs": [ "NC_000015.10:g.31028454A>T", "CM000677.2:g.31028454A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 31320657, "referenceAllele": "A", "start": 31320656 } ], "hgvs": [ "NC_000015.9:g.31320657A>T", "CM000677.1:g.31320657A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 29107949, "referenceAllele": "A", "start": 29107948 } ], "hgvs": [ "NC_000015.8:g.29107949A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 78268, "referenceAllele": "T", "start": 78267 } ], "hgvs": [ "NG_016453.1:g.78268T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003196" }, { "coordinates": [ { "allele": "A", "end": 137820, "referenceAllele": "T", "start": 137819 } ], "hgvs": [ "NG_016453.2:g.137820T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616230" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3255, "referenceAllele": "T", "start": 3254 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000711434.1:c.3123T>A" ], "proteinEffect": { "hgvs": "ENSP00000518752.1:p.Tyr1041Ter", "hgvsWellDefined": "ENSP00000518752.1:p.Tyr1041_Cys1609delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914798" }, { "coordinates": [ { "allele": "A", "end": 3237, "referenceAllele": "T", "start": 3236 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000397795.7:c.3105T>A" ], "proteinEffect": { "hgvs": "ENSP00000380897.2:p.Tyr1035Ter", "hgvsWellDefined": "ENSP00000380897.2:p.Tyr1035_Cys1603delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904628" }, { "coordinates": [ { "allele": "A", "end": 3423, "referenceAllele": "T", "start": 3422 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558445.6:c.3222T>A" ], "proteinEffect": { "hgvs": "ENSP00000452946.2:p.Tyr1074Ter", "hgvsWellDefined": "ENSP00000452946.2:p.Tyr1074_Cys1642delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905899" }, { "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "T", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000559177.6:c.567T>A" ], "proteinEffect": { "hgvs": "ENSP00000453477.2:p.Tyr189Ter", "hgvsWellDefined": "ENSP00000453477.2:p.Tyr189_Cys757delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905904" }, { "coordinates": [ { "allele": "A", "end": 3323, "referenceAllele": "T", "start": 3322 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000256552.11:c.3171T>A" ], "proteinEffect": { "hgvs": "ENSP00000256552.7:p.Tyr1057Ter", "hgvsWellDefined": "ENSP00000256552.7:p.Tyr1057_Cys1625delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741786", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256552.11:c.3171T>A" }, "RefSeq": { "hgvs": "NM_001252024.2:c.3171T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256552.7:p.Tyr1057Ter" }, "RefSeq": { "hgvs": "NP_001238953.1:p.Tyr1057Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3319, "referenceAllele": "T", "start": 3318 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000256552.10:c.3171T>A" ], "proteinEffect": { "hgvs": "ENSP00000256552.6:p.Tyr1057Ter", "hgvsWellDefined": "ENSP00000256552.6:p.Tyr1057_Cys1625delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250190" }, { "coordinates": [ { "allele": "A", "end": 3219, "referenceAllele": "T", "start": 3218 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000397795.6:c.3105T>A" ], "proteinEffect": { "hgvs": "ENSP00000380897.2:p.Tyr1035Ter", "hgvsWellDefined": "ENSP00000380897.2:p.Tyr1035_Cys1603delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277983" }, { "coordinates": [ { "allele": "A", "end": 3536, "referenceAllele": "T", "start": 3535 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000542188.5:c.3222T>A" ], "proteinEffect": { "hgvs": "ENSP00000437849.1:p.Tyr1074Ter", "hgvsWellDefined": "ENSP00000437849.1:p.Tyr1074_Cys1642delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363321" }, { "coordinates": [ { "allele": "A", "end": 546, "referenceAllele": "T", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000557948.1:n.546T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS373436" }, { "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "T", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558212.5:n.394T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS373636" }, { "coordinates": [ { "allele": "A", "end": 3217, "referenceAllele": "T", "start": 3216 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558445.5:c.3105T>A" ], "proteinEffect": { "hgvs": "ENSP00000452946.1:p.Tyr1035Ter", "hgvsWellDefined": "ENSP00000452946.1:p.Tyr1035_Gln1390del" }, "referenceSequence": "http://reg.genome.network/refseq/RS373798" }, { "coordinates": [ { "allele": "A", "end": 2874, "referenceAllele": "T", "start": 2873 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000558768.5:c.2874T>A" ], "proteinEffect": { "hgvs": "ENSP00000453119.2:p.Tyr958Ter", "hgvsWellDefined": "ENSP00000453119.2:p.Tyr958_Cys1526delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374053" }, { "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "T", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000559177.5:c.450T>A" ], "proteinEffect": { "hgvs": "ENSP00000453477.1:p.Tyr150Ter", "hgvsWellDefined": "ENSP00000453477.1:p.Tyr150_Gln505del" }, "referenceSequence": "http://reg.genome.network/refseq/RS374378" }, { "coordinates": [ { "allele": "A", "end": 2747, "referenceAllele": "T", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "ENST00000560801.5:c.2747T>A" ], "proteinEffect": { "hgvs": "ENSP00000453644.2:n.2747T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS375624" }, { "@id": "http://reg.genome.network/allele/PA916008334", "coordinates": [ { "allele": "A", "end": 3536, "referenceAllele": "T", "start": 3535 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252020.1:c.3222T>A" ], "proteinEffect": { "hgvs": "NP_001238949.1:p.Tyr1074Ter", "hgvsWellDefined": "NP_001238949.1:p.Tyr1074_Cys1642delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018833" }, { "@id": "http://reg.genome.network/allele/PA2826346962", "coordinates": [ { "allele": "A", "end": 3324, "referenceAllele": "T", "start": 3323 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252024.1:c.3171T>A" ], "proteinEffect": { "hgvs": "NP_001238953.1:p.Tyr1057Ter", "hgvsWellDefined": "NP_001238953.1:p.Tyr1057_Cys1625delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018836" }, { "@id": "http://reg.genome.network/allele/PA118066", "coordinates": [ { "allele": "A", "end": 3238, "referenceAllele": "T", "start": 3237 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_002420.5:c.3105T>A" ], "proteinEffect": { "hgvs": "NP_002411.3:p.Tyr1035Ter", "hgvsWellDefined": "NP_002411.3:p.Tyr1035_Cys1603delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027725" }, { "coordinates": [ { "allele": "T", "end": 260, "endIntronDirection": "+", "endIntronOffset": 1343, "referenceAllele": "A", "start": 260, "startIntronDirection": "+", "startIntronOffset": 1342 } ], "hgvs": [ "XR_932055.1:n.260+1343A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128099" }, { "coordinates": [ { "allele": "T", "end": 89, "endIntronDirection": "+", "endIntronOffset": 1343, "referenceAllele": "A", "start": 89, "startIntronDirection": "+", "startIntronOffset": 1342 } ], "hgvs": [ "XR_932056.1:n.89+1343A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128100" }, { "coordinates": [ { "allele": "T", "end": 260, "endIntronDirection": "+", "endIntronOffset": 1343, "referenceAllele": "A", "start": 260, "startIntronDirection": "+", "startIntronOffset": 1342 } ], "hgvs": [ "XR_932057.1:n.260+1343A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128101" }, { "coordinates": [ { "allele": "T", "end": 88, "endIntronDirection": "+", "endIntronOffset": 1343, "referenceAllele": "A", "start": 88, "startIntronDirection": "+", "startIntronOffset": 1342 } ], "hgvs": [ "XR_932058.1:n.88+1343A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128102" }, { "coordinates": [ { "allele": "T", "end": 278, "endIntronDirection": "+", "endIntronOffset": 1343, "referenceAllele": "A", "start": 278, "startIntronDirection": "+", "startIntronOffset": 1342 } ], "hgvs": [ "XR_001751769.1:n.278+1343A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598589" }, { "@id": "http://reg.genome.network/allele/PA2826346962", "coordinates": [ { "allele": "A", "end": 3323, "referenceAllele": "T", "start": 3322 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252024.2:c.3171T>A" ], "proteinEffect": { "hgvs": "NP_001238953.1:p.Tyr1057Ter", "hgvsWellDefined": "NP_001238953.1:p.Tyr1057_Cys1625delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680376", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000256552.11:c.3171T>A" }, "RefSeq": { "hgvs": "NM_001252024.2:c.3171T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000256552.7:p.Tyr1057Ter" }, "RefSeq": { "hgvs": "NP_001238953.1:p.Tyr1057Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA118066", "coordinates": [ { "allele": "A", "end": 3237, "referenceAllele": "T", "start": 3236 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_002420.6:c.3105T>A" ], "proteinEffect": { "hgvs": "NP_002411.3:p.Tyr1035Ter", "hgvsWellDefined": "NP_002411.3:p.Tyr1035_Cys1603delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695542" }, { "@id": "http://reg.genome.network/allele/PA916008334", "coordinates": [ { "allele": "A", "end": 3423, "referenceAllele": "T", "start": 3422 } ], "gene": "http://reg.genome.network/gene/GN007146", "geneNCBI_id": 4308, "geneSymbol": "TRPM1", "hgvs": [ "NM_001252020.2:c.3222T>A" ], "proteinEffect": { "hgvs": "NP_001238949.1:p.Tyr1074Ter", "hgvsWellDefined": "NP_001238949.1:p.Tyr1074_Cys1642delinsAspGluGluGlyLysArgLeuProProCysIleProGlyAlaTrpLeuThrProAlaLeuMetAlaCysTyrLeuLeuValAlaAsnIleLeuLeuValAsnLeuLeuIleAlaValPheAsnAsnThrPhePheGluValLysSerIleSerAsnGlnValTrpLysPheGlnArgTyrGlnLeuIleMetThrPheHisAspArgProValLeuProProProMetIleIleLeuSerHisIleTyrIleIleIleMetArgLeuSerGlyArgCysArgLysLysArgGluGlyAspGlnGluGluArgAspArgGlyLeuLysLeuPheLeuSerAspGluGluLeuLysArgLeuHisGluPheGluGluGlnCysValGlnGluHisPheArgGluLysGluAspGluGlnGlnSerSerSerAspGluArgIleArgValThrSerGluArgValGluAsnMetSerMetArgLeuGluGluIleAsnGluArgGluThrPheMetLysThrSerLeuGlnThrValAspLeuArgLeuAlaGlnLeuGluGluLeuSerAsnArgMetValAsnAlaLeuGluAsnLeuAlaGlyIleAspArgSerAspLeuIleGlnAlaArgSerArgAlaSerSerGluCysGluAlaThrTyrLeuLeuArgGlnSerSerIleAsnSerAlaAspGlyTyrSerLeuTyrArgTyrHisPheAsnGlyGluGluLeuLeuPheGluAspThrSerLeuSerThrSerProGlyThrGlyValArgLysLysThrCysSerPheArgIleLysGluGluLysAspValLysThrHisLeuValProGluCysGlnAsnSerLeuHisLeuSerLeuGlyThrSerThrSerAlaThrProAspGlySerHisLeuAlaValAspAspLeuLysAsnAlaGluGluSerLysLeuGlyProAspIleGlyIleSerLysGluAspAspGluArgGlnThrAspSerLysLysGluGluThrIleSerProSerLeuAsnLysThrAspValIleHisGlyGlnAspLysSerAspValGlnAsnThrGlnLeuThrValGluThrThrAsnIleGluGlyThrIleSerTyrProLeuGluGluThrLysIleThrArgTyrPheProAspGluThrIleAsnAlaCysLysThrMetLysSerArgSerPheValTyrSerArgGlyArgLysLeuValGlyGlyValAsnGlnAspValGluTyrSerSerIleThrAspGlnGlnLeuThrThrGluTrpGlnCysGlnValGlnLysIleThrArgSerHisSerThrAspIleProTyrIleValSerGluAlaAlaValGlnAlaGluHisLysGluGlnPheAlaAspMetGlnAspGluHisHisValAlaGluAlaIleProArgIleProArgLeuSerLeuThrIleThrAspArgAsnGlyMetGluAsnLeuLeuSerValLysProAspGlnThrLeuGlyPheProSerLeuArgSerLysSerLeuHisGlyHisProArgAsnValLysSerIleGlnGlyLysLeuAspArgSerGlyHisAlaSerSerValSerSerLeuValIleValSerGlyMetThrAlaGluGluLysLysValLysLysGluLysAlaSerThrGluThrGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714610" } ], "type": "nucleotide" }