{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344163455", "communityStandardTitle": [ "NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=627249[alleleid]", "alleleId": 627249, "preferredName": "NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/643605", "RCV": [ "RCV000797345" ], "variationId": 643605 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.201031155C>T?assembly=hg19", "id": "chr1:g.201031155C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.201062027C>T?assembly=hg38", "id": "chr1:g.201062027C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1572035834", "rs": 1572035834 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 201062027, "referenceAllele": "C", "start": 201062026 } ], "hgvs": [ "NC_000001.11:g.201062027C>T", "CM000663.2:g.201062027C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 201031155, "referenceAllele": "C", "start": 201031154 } ], "hgvs": [ "NC_000001.10:g.201031155C>T", "CM000663.1:g.201031155C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 199297778, "referenceAllele": "C", "start": 199297777 } ], "hgvs": [ "NC_000001.9:g.199297778C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 55540, "referenceAllele": "G", "start": 55539 } ], "hgvs": [ "NG_009816.1:g.55540G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001653" }, { "coordinates": [ { "allele": "A", "end": 55540, "referenceAllele": "G", "start": 55539 } ], "hgvs": [ "NG_009816.2:g.55540G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673532" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3057, "referenceAllele": "G", "start": 3056 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "ENST00000362061.4:c.2970G>A" ], "proteinEffect": { "hgvs": "ENSP00000355192.3:p.Trp990Ter", "hgvsWellDefined": "ENSP00000355192.3:p.Trp990_Leu1873delinsValHisSerAspPheHisPheAspAsnValLeuSerAlaMetMetSerLeuPheThrValSerThrPheGluGlyTrpProGlnLeuLeuTyrLysAlaIleAspSerAsnAlaGluAspValGlyProIleTyrAsnAsnArgValGluMetAlaIlePhePheIleIleTyrIleIleLeuIleAlaPhePheMetMetAsnIlePheValGlyPheValIleValThrPheGlnGluGlnGlyGluThrGluTyrLysAsnCysGluLeuAspLysAsnGlnArgGlnCysValGlnTyrAlaLeuLysAlaArgProLeuArgCysTyrIleProLysAsnProTyrGlnTyrGlnValTrpTyrIleValThrSerSerTyrPheGluTyrLeuMetPheAlaLeuIleMetLeuAsnThrIleCysLeuGlyMetGlnHisTyrAsnGlnSerGluGlnMetAsnHisIleSerAspIleLeuAsnValAlaPheThrIleIlePheThrLeuGluMetIleLeuLysLeuMetAlaPheLysAlaArgGlyTyrPheGlyAspProTrpAsnValPheAspPheLeuIleValIleGlySerIleIleAspValIleLeuSerGluIleAspThrPheLeuAlaSerSerGlyGlyLeuTyrCysLeuGlyGlyGlyCysGlyAsnValAspProAspGluSerAlaArgIleSerSerAlaPhePheArgLeuPheArgValMetArgLeuIleLysLeuLeuSerArgAlaGluGlyValArgThrLeuLeuTrpThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleValMetLeuPhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysIleAlaLeuValAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749587", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000362061.4:c.2970G>A" }, "RefSeq": { "hgvs": "NM_000069.3:c.2970G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355192.3:p.Trp990Ter" }, "RefSeq": { "hgvs": "NP_000060.2:p.Trp990Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3336, "referenceAllele": "G", "start": 3335 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "ENST00000679417.1:c.*2133G>A" ], "proteinEffect": { "hgvs": "ENSP00000506706.1:n.*2133G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779048" }, { "coordinates": [ { "allele": "A", "end": 96, "referenceAllele": "G", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "ENST00000680051.1:n.96G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779672" }, { "coordinates": [ { "allele": "A", "end": 3083, "referenceAllele": "G", "start": 3082 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "ENST00000680059.1:c.*488G>A" ], "proteinEffect": { "hgvs": "ENSP00000504944.1:n.*488G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS779680" }, { "coordinates": [ { "allele": "A", "end": 3057, "referenceAllele": "G", "start": 3056 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "ENST00000681078.1:c.2970G>A" ], "proteinEffect": { "hgvs": "ENSP00000506645.1:p.Trp990Ter", "hgvsWellDefined": "ENSP00000506645.1:p.Trp990_Ser1451delinsValHisSerAspPheHisPheAspAsnValLeuSerAlaMetMetSerLeuPheThrValSerThrPheGluGlyTrpProGlnLeuLeuTyrLysAlaIleAspSerAsnAlaGluAspValGlyProIleTyrAsnAsnArgValGluMetAlaIlePhePheIleIleTyrIleIleLeuIleAlaPhePheMetMetAsnIlePheValGlyPheValIleValThrPheGlnGluGlnGlyGluThrGluTyrLysAsnCysGluLeuAspLysAsnGlnArgGlnCysValGlnTyrAlaLeuLysAlaArgProLeuArgCysTyrIleProLysAsnProTyrGlnTyrGlnValTrpTyrIleValThrSerSerTyrPheGluTyrLeuMetPheAlaLeuIleMetLeuAsnThrIleCysLeuGlyMetGlnHisTyrAsnGlnSerGluGlnMetAsnHisIleSerAspIleLeuAsnValAlaPheThrIleIlePheThrLeuGluMetIleLeuLysLeuMetAlaPheLysAlaArgGlyTyrPheGlyAspProTrpAsnValPheAspPheLeuIleValIleGlySerIleIleAspValIleLeuSerGluIleAspThrPheLeuAlaSerSerGlyGlyLeuTyrCysLeuGlyGlyGlyCysGlyAsnValAspProAspGluSerAlaArgIleSerSerAlaPhePheArgLeuPheArgValMetArgLeuIleLysLeuLeuSerArgAlaGluGlyValArgThrLeuLeuTrpThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleValMetLeuPhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysIleAlaLeuValAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysAspValLeuValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780691" }, { "coordinates": [ { "allele": "A", "end": 3057, "referenceAllele": "G", "start": 3056 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "ENST00000681190.1:c.2970G>A" ], "proteinEffect": { "hgvs": "ENSP00000506428.1:p.Trp990Ter", "hgvsWellDefined": "ENSP00000506428.1:p.Trp990_Val1288delinsValHisSerAspPheHisPheAspAsnValLeuSerAlaMetMetSerLeuPheThrValSerThrPheGluGlyTrpProGlnLeuLeuTyrLysAlaIleAspSerAsnAlaGluAspValGlyProIleTyrAsnAsnArgValGluMetAlaIlePhePheIleIleTyrIleIleLeuIleAlaPhePheMetMetAsnIlePheValGlyPheValIleValThrPheGlnGluGlnGlyGluThrGluTyrLysAsnCysGluLeuAspLysAsnGlnArgGlnCysValGlnTyrAlaLeuLysAlaArgProLeuArgCysTyrIleProLysAsnProTyrGlnTyrGlnValTrpTyrIleValThrSerSerTyrPheGluTyrLeuMetPheAlaLeuIleMetLeuAsnThrIleCysLeuGlyMetGlnHisTyrAsnGlnSerGluGlnMetAsnHisIleSerAspIleLeuAsnValAlaPheThrIleIlePheThrLeuGluMetIleLeuLysLeuMetAlaPheLysAlaArgGlyTyrPheGlyAspProTrpAsnValPheAspPheLeuIleValIleGlySerIleIleAspValIleLeuSerGluIleAspThrPheLeuAlaSerSerGlyGlyLeuTyrCysLeuGlyGlyGlyCysGlyAsnValAspProAspGluSerAlaArgIleSerSerAlaPhePheArgLeuPheArgValMetArgLeuIleLysLeuLeuSerArgAlaGluGlyValArgThrLeuLeuTrpThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleValMetLeuPhePheIleTyrAlaValIleGlyMetGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS780801" }, { "coordinates": [ { "allele": "A", "end": 2997, "referenceAllele": "G", "start": 2996 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "ENST00000681874.1:c.2910G>A" ], "proteinEffect": { "hgvs": "ENSP00000505162.1:p.Trp970Ter", "hgvsWellDefined": "ENSP00000505162.1:p.Trp970_Leu1853delinsValHisSerAspPheHisPheAspAsnValLeuSerAlaMetMetSerLeuPheThrValSerThrPheGluGlyTrpProGlnLeuLeuTyrLysAlaIleAspSerAsnAlaGluAspValGlyProIleTyrAsnAsnArgValGluMetAlaIlePhePheIleIleTyrIleIleLeuIleAlaPhePheMetMetAsnIlePheValGlyPheValIleValThrPheGlnGluGlnGlyGluThrGluTyrLysAsnCysGluLeuAspLysAsnGlnArgGlnCysValGlnTyrAlaLeuLysAlaArgProLeuArgCysTyrIleProLysAsnProTyrGlnTyrGlnValTrpTyrIleValThrSerSerTyrPheGluTyrLeuMetPheAlaLeuIleMetLeuAsnThrIleCysLeuGlyMetGlnHisTyrAsnGlnSerGluGlnMetAsnHisIleSerAspIleLeuAsnValAlaPheThrIleIlePheThrLeuGluMetIleLeuLysLeuMetAlaPheLysAlaArgGlyTyrPheGlyAspProTrpAsnValPheAspPheLeuIleValIleGlySerIleIleAspValIleLeuSerGluIleAspThrPheLeuAlaSerSerGlyGlyLeuTyrCysLeuGlyGlyGlyCysGlyAsnValAspProAspGluSerAlaArgIleSerSerAlaPhePheArgLeuPheArgValMetArgLeuIleLysLeuLeuSerArgAlaGluGlyValArgThrLeuLeuTrpThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleValMetLeuPhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysIleAlaLeuValAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS781475" }, { "coordinates": [ { "allele": "A", "end": 3197, "referenceAllele": "G", "start": 3196 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "ENST00000362061.3:c.2970G>A" ], "proteinEffect": { "hgvs": "ENSP00000355192.3:p.Trp990Ter", "hgvsWellDefined": "ENSP00000355192.3:p.Trp990_Leu1873delinsValHisSerAspPheHisPheAspAsnValLeuSerAlaMetMetSerLeuPheThrValSerThrPheGluGlyTrpProGlnLeuLeuTyrLysAlaIleAspSerAsnAlaGluAspValGlyProIleTyrAsnAsnArgValGluMetAlaIlePhePheIleIleTyrIleIleLeuIleAlaPhePheMetMetAsnIlePheValGlyPheValIleValThrPheGlnGluGlnGlyGluThrGluTyrLysAsnCysGluLeuAspLysAsnGlnArgGlnCysValGlnTyrAlaLeuLysAlaArgProLeuArgCysTyrIleProLysAsnProTyrGlnTyrGlnValTrpTyrIleValThrSerSerTyrPheGluTyrLeuMetPheAlaLeuIleMetLeuAsnThrIleCysLeuGlyMetGlnHisTyrAsnGlnSerGluGlnMetAsnHisIleSerAspIleLeuAsnValAlaPheThrIleIlePheThrLeuGluMetIleLeuLysLeuMetAlaPheLysAlaArgGlyTyrPheGlyAspProTrpAsnValPheAspPheLeuIleValIleGlySerIleIleAspValIleLeuSerGluIleAspThrPheLeuAlaSerSerGlyGlyLeuTyrCysLeuGlyGlyGlyCysGlyAsnValAspProAspGluSerAlaArgIleSerSerAlaPhePheArgLeuPheArgValMetArgLeuIleLysLeuLeuSerArgAlaGluGlyValArgThrLeuLeuTrpThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleValMetLeuPhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysIleAlaLeuValAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247221" }, { "coordinates": [ { "allele": "A", "end": 3082, "referenceAllele": "G", "start": 3081 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "ENST00000367338.7:c.2970G>A" ], "proteinEffect": { "hgvs": "ENSP00000356307.3:p.Trp990Ter", "hgvsWellDefined": "ENSP00000356307.3:p.Trp990_Leu1854delinsValHisSerAspPheHisPheAspAsnValLeuSerAlaMetMetSerLeuPheThrValSerThrPheGluGlyTrpProGlnLeuLeuTyrLysAlaIleAspSerAsnAlaGluAspValGlyProIleTyrAsnAsnArgValGluMetAlaIlePhePheIleIleTyrIleIleLeuIleAlaPhePheMetMetAsnIlePheValGlyPheValIleValThrPheGlnGluGlnGlyGluThrGluTyrLysAsnCysGluLeuAspLysAsnGlnArgGlnCysValGlnTyrAlaLeuLysAlaArgProLeuArgCysTyrIleProLysAsnProTyrGlnTyrGlnValTrpTyrIleValThrSerSerTyrPheGluTyrLeuMetPheAlaLeuIleMetLeuAsnThrIleCysLeuGlyMetGlnHisTyrAsnGlnSerGluGlnMetAsnHisIleSerAspIleLeuAsnValAlaPheThrIleIlePheThrLeuGluMetIleLeuLysLeuMetAlaPheLysAlaArgGlyTyrPheGlyAspProTrpAsnValPheAspPheLeuIleValIleGlySerIleIleAspValIleLeuSerGluIleAspAspProAspGluSerAlaArgIleSerSerAlaPhePheArgLeuPheArgValMetArgLeuIleLysLeuLeuSerArgAlaGluGlyValArgThrLeuLeuTrpThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleValMetLeuPhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysIleAlaLeuValAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247424" }, { "@id": "http://reg.genome.network/allele/PA915961191", "coordinates": [ { "allele": "A", "end": 3197, "referenceAllele": "G", "start": 3196 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "NM_000069.2:c.2970G>A" ], "proteinEffect": { "hgvs": "NP_000060.2:p.Trp990Ter", "hgvsWellDefined": "NP_000060.2:p.Trp990_Leu1873delinsValHisSerAspPheHisPheAspAsnValLeuSerAlaMetMetSerLeuPheThrValSerThrPheGluGlyTrpProGlnLeuLeuTyrLysAlaIleAspSerAsnAlaGluAspValGlyProIleTyrAsnAsnArgValGluMetAlaIlePhePheIleIleTyrIleIleLeuIleAlaPhePheMetMetAsnIlePheValGlyPheValIleValThrPheGlnGluGlnGlyGluThrGluTyrLysAsnCysGluLeuAspLysAsnGlnArgGlnCysValGlnTyrAlaLeuLysAlaArgProLeuArgCysTyrIleProLysAsnProTyrGlnTyrGlnValTrpTyrIleValThrSerSerTyrPheGluTyrLeuMetPheAlaLeuIleMetLeuAsnThrIleCysLeuGlyMetGlnHisTyrAsnGlnSerGluGlnMetAsnHisIleSerAspIleLeuAsnValAlaPheThrIleIlePheThrLeuGluMetIleLeuLysLeuMetAlaPheLysAlaArgGlyTyrPheGlyAspProTrpAsnValPheAspPheLeuIleValIleGlySerIleIleAspValIleLeuSerGluIleAspThrPheLeuAlaSerSerGlyGlyLeuTyrCysLeuGlyGlyGlyCysGlyAsnValAspProAspGluSerAlaArgIleSerSerAlaPhePheArgLeuPheArgValMetArgLeuIleLysLeuLeuSerArgAlaGluGlyValArgThrLeuLeuTrpThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleValMetLeuPhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysIleAlaLeuValAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006133" }, { "coordinates": [ { "allele": "A", "end": 3063, "referenceAllele": "G", "start": 3062 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "XM_005245478.2:c.2970G>A" ], "proteinEffect": { "hgvs": "XP_005245535.1:p.Trp990Ter", "hgvsWellDefined": "XP_005245535.1:p.Trp990_Leu1854delinsValHisSerAspPheHisPheAspAsnValLeuSerAlaMetMetSerLeuPheThrValSerThrPheGluGlyTrpProGlnLeuLeuTyrLysAlaIleAspSerAsnAlaGluAspValGlyProIleTyrAsnAsnArgValGluMetAlaIlePhePheIleIleTyrIleIleLeuIleAlaPhePheMetMetAsnIlePheValGlyPheValIleValThrPheGlnGluGlnGlyGluThrGluTyrLysAsnCysGluLeuAspLysAsnGlnArgGlnCysValGlnTyrAlaLeuLysAlaArgProLeuArgCysTyrIleProLysAsnProTyrGlnTyrGlnValTrpTyrIleValThrSerSerTyrPheGluTyrLeuMetPheAlaLeuIleMetLeuAsnThrIleCysLeuGlyMetGlnHisTyrAsnGlnSerGluGlnMetAsnHisIleSerAspIleLeuAsnValAlaPheThrIleIlePheThrLeuGluMetIleLeuLysLeuMetAlaPheLysAlaArgGlyTyrPheGlyAspProTrpAsnValPheAspPheLeuIleValIleGlySerIleIleAspValIleLeuSerGluIleAspAspProAspGluSerAlaArgIleSerSerAlaPhePheArgLeuPheArgValMetArgLeuIleLysLeuLeuSerArgAlaGluGlyValArgThrLeuLeuTrpThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleValMetLeuPhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysIleAlaLeuValAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057238" }, { "coordinates": [ { "allele": "A", "end": 3084, "referenceAllele": "G", "start": 3083 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "XM_005245478.3:c.2970G>A" ], "proteinEffect": { "hgvs": "XP_005245535.1:p.Trp990Ter", "hgvsWellDefined": "XP_005245535.1:p.Trp990_Leu1854delinsValHisSerAspPheHisPheAspAsnValLeuSerAlaMetMetSerLeuPheThrValSerThrPheGluGlyTrpProGlnLeuLeuTyrLysAlaIleAspSerAsnAlaGluAspValGlyProIleTyrAsnAsnArgValGluMetAlaIlePhePheIleIleTyrIleIleLeuIleAlaPhePheMetMetAsnIlePheValGlyPheValIleValThrPheGlnGluGlnGlyGluThrGluTyrLysAsnCysGluLeuAspLysAsnGlnArgGlnCysValGlnTyrAlaLeuLysAlaArgProLeuArgCysTyrIleProLysAsnProTyrGlnTyrGlnValTrpTyrIleValThrSerSerTyrPheGluTyrLeuMetPheAlaLeuIleMetLeuAsnThrIleCysLeuGlyMetGlnHisTyrAsnGlnSerGluGlnMetAsnHisIleSerAspIleLeuAsnValAlaPheThrIleIlePheThrLeuGluMetIleLeuLysLeuMetAlaPheLysAlaArgGlyTyrPheGlyAspProTrpAsnValPheAspPheLeuIleValIleGlySerIleIleAspValIleLeuSerGluIleAspAspProAspGluSerAlaArgIleSerSerAlaPhePheArgLeuPheArgValMetArgLeuIleLysLeuLeuSerArgAlaGluGlyValArgThrLeuLeuTrpThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleValMetLeuPhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysIleAlaLeuValAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS532434" }, { "@id": "http://reg.genome.network/allele/PA915961191", "coordinates": [ { "allele": "A", "end": 3057, "referenceAllele": "G", "start": 3056 } ], "gene": "http://reg.genome.network/gene/GN001397", "geneNCBI_id": 779, "geneSymbol": "CACNA1S", "hgvs": [ "NM_000069.3:c.2970G>A" ], "proteinEffect": { "hgvs": "NP_000060.2:p.Trp990Ter", "hgvsWellDefined": "NP_000060.2:p.Trp990_Leu1873delinsValHisSerAspPheHisPheAspAsnValLeuSerAlaMetMetSerLeuPheThrValSerThrPheGluGlyTrpProGlnLeuLeuTyrLysAlaIleAspSerAsnAlaGluAspValGlyProIleTyrAsnAsnArgValGluMetAlaIlePhePheIleIleTyrIleIleLeuIleAlaPhePheMetMetAsnIlePheValGlyPheValIleValThrPheGlnGluGlnGlyGluThrGluTyrLysAsnCysGluLeuAspLysAsnGlnArgGlnCysValGlnTyrAlaLeuLysAlaArgProLeuArgCysTyrIleProLysAsnProTyrGlnTyrGlnValTrpTyrIleValThrSerSerTyrPheGluTyrLeuMetPheAlaLeuIleMetLeuAsnThrIleCysLeuGlyMetGlnHisTyrAsnGlnSerGluGlnMetAsnHisIleSerAspIleLeuAsnValAlaPheThrIleIlePheThrLeuGluMetIleLeuLysLeuMetAlaPheLysAlaArgGlyTyrPheGlyAspProTrpAsnValPheAspPheLeuIleValIleGlySerIleIleAspValIleLeuSerGluIleAspThrPheLeuAlaSerSerGlyGlyLeuTyrCysLeuGlyGlyGlyCysGlyAsnValAspProAspGluSerAlaArgIleSerSerAlaPhePheArgLeuPheArgValMetArgLeuIleLysLeuLeuSerArgAlaGluGlyValArgThrLeuLeuTrpThrPheIleLysSerPheGlnAlaLeuProTyrValAlaLeuLeuIleValMetLeuPhePheIleTyrAlaValIleGlyMetGlnMetPheGlyLysIleAlaLeuValAspGlyThrGlnIleAsnArgAsnAsnAsnPheGlnThrPheProGlnAlaValLeuLeuLeuPheArgCysAlaThrGlyGluAlaTrpGlnGluIleLeuLeuAlaCysSerTyrGlyLysLeuCysAspProGluSerAspTyrAlaProGlyGluGluTyrThrCysGlyThrAsnPheAlaTyrTyrTyrPheIleSerPheTyrMetLeuCysAlaPheLeuValIleAsnLeuPheValAlaValIleMetAspAsnPheAspTyrLeuThrArgAspTrpSerIleLeuGlyProHisHisLeuAspGluPheLysAlaIleTrpAlaGluTyrAspProGluAlaLysGlyArgIleLysHisLeuAspValValThrLeuLeuArgArgIleGlnProProLeuGlyPheGlyLysPheCysProHisArgValAlaCysLysArgLeuValGlyMetAsnMetProLeuAsnSerAspGlyThrValThrPheAsnAlaThrLeuPheAlaLeuValArgThrAlaLeuLysIleLysThrGluGlyAsnPheGluGlnAlaAsnGluGluLeuArgAlaIleIleLysLysIleTrpLysArgThrSerMetLysLeuLeuAspGlnValIleProProIleGlyAspAspGluValThrValGlyLysPheTyrAlaThrPheLeuIleGlnGluHisPheArgLysPheMetLysArgGlnGluGluTyrTyrGlyTyrArgProLysLysAspIleValGlnIleGlnAlaGlyLeuArgThrIleGluGluGluAlaAlaProGluIleCysArgThrValSerGlyAspLeuAlaAlaGluGluGluLeuGluArgAlaMetValGluAlaAlaMetGluGluGlyIlePheArgArgThrGlyGlyLeuPheGlyGlnValAspAsnPheLeuGluArgThrAsnSerLeuProProValMetAlaAsnGlnArgProLeuGlnPheAlaGluIleGluMetGluGluMetGluSerProValPheLeuGluAspPheProGlnAspProArgThrAsnProLeuAlaArgAlaAsnThrAsnAsnAlaAsnAlaAsnValAlaTyrGlyAsnSerAsnHisSerAsnSerHisValPheSerSerValHisTyrGluArgGluPheProGluGluThrGluThrProAlaThrArgGlyArgAlaLeuGlyGlnProCysArgValLeuGlyProHisSerLysProCysValGluMetLeuLysGlyLeuLeuThrGlnArgAlaMetProArgGlyGlnAlaProProAlaProCysGlnCysProArgValGluSerSerMetProGluAspArgLysSerSerThrProGlySerLeuHisGluGluThrProHisSerArgSerThrArgGluAsnThrSerArgCysSerAlaProAlaThrAlaLeuLeuIleGlnLysAlaLeuValArgGlyGlyLeuGlyThrLeuAlaAlaAspAlaAsnPheIleMetAlaThrGlyGlnAlaLeuAlaAspAlaCysGlnMetGluProGluGluValGluIleMetAlaThrGluLeuLeuLysGlyArgGluAlaProGluGlyMetAlaSerSerLeuGlyCysLeuAsnLeuGlySerSerLeuGlySerLeuAspGlnHisGlnGlySerGlnGluThrLeuIleProProArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662308", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000362061.4:c.2970G>A" }, "RefSeq": { "hgvs": "NM_000069.3:c.2970G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355192.3:p.Trp990Ter" }, "RefSeq": { "hgvs": "NP_000060.2:p.Trp990Ter" } } } } ], "type": "nucleotide" }