{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA023988", "communityStandardTitle": [ "NM_000540.3(RYR1):c.12612G>A (p.Trp4204Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=196363[alleleid]", "alleleId": 196363, "preferredName": "NM_000540.3(RYR1):c.12612G>A (p.Trp4204Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199204", "RCV": [ "RCV000180724" ], "variationId": 199204 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.39052082G>A?assembly=hg19", "id": "chr19:g.39052082G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.38561442G>A?assembly=hg38", "id": "chr19:g.38561442G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/794727982", "rs": 794727982 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 38561442, "referenceAllele": "G", "start": 38561441 } ], "hgvs": [ "NC_000019.10:g.38561442G>A", "CM000681.2:g.38561442G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 39052082, "referenceAllele": "G", "start": 39052081 } ], "hgvs": [ "NC_000019.9:g.39052082G>A", "CM000681.1:g.39052082G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "A", "end": 43743922, "referenceAllele": "G", "start": 43743921 } ], "hgvs": [ "NC_000019.8:g.43743922G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 132743, "referenceAllele": "G", "start": 132742 } ], "hgvs": [ "NG_008866.1:g.132743G>A", "LRG_766:g.132743G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001261" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1022, "referenceAllele": "G", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000688602.1:c.1022G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831718" }, { "coordinates": [ { "allele": "A", "end": 1004, "referenceAllele": "G", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000689936.1:c.1004G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832452" }, { "coordinates": [ { "allele": "A", "end": 12751, "referenceAllele": "G", "start": 12750 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000359596.8:c.12612G>A" ], "proteinEffect": { "hgvs": "ENSP00000352608.2:p.Trp4204Ter", "hgvsWellDefined": "ENSP00000352608.2:p.Trp4204_Ser5038delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749219", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359596.8:c.12612G>A" }, "RefSeq": { "hgvs": "NM_000540.3:c.12612G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352608.2:p.Trp4204Ter" }, "RefSeq": { "hgvs": "NP_000531.2:p.Trp4204Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 12728, "referenceAllele": "G", "start": 12727 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000355481.8:c.12597G>A" ], "proteinEffect": { "hgvs": "ENSP00000347667.3:p.Trp4199Ter", "hgvsWellDefined": "ENSP00000347667.3:p.Trp4199_Ser5033delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247177" }, { "coordinates": [ { "allele": "A", "end": 12612, "referenceAllele": "G", "start": 12611 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000359596.7:c.12612G>A" ], "proteinEffect": { "hgvs": "ENSP00000352608.2:p.Trp4204Ter", "hgvsWellDefined": "ENSP00000352608.2:p.Trp4204_Ser5038delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246733" }, { "coordinates": [ { "allele": "A", "end": 12701, "referenceAllele": "G", "start": 12700 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000360985.7:c.12594G>A" ], "proteinEffect": { "hgvs": "ENSP00000354254.4:p.Trp4198Ter", "hgvsWellDefined": "ENSP00000354254.4:p.Trp4198_Ser5032delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247225" }, { "coordinates": [ { "allele": "A", "end": 5981, "referenceAllele": "G", "start": 5980 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000594335.5:c.5981G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS394607" }, { "@id": "http://reg.genome.network/allele/PA275454", "coordinates": [ { "allele": "A", "end": 12742, "referenceAllele": "G", "start": 12741 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "NM_000540.2:c.12612G>A", "LRG_766t1:c.12612G>A" ], "proteinEffect": { "hgvs": "NP_000531.2:p.Trp4204Ter", "hgvsWellDefined": "NP_000531.2:p.Trp4204_Ser5038delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006598" }, { "@id": "http://reg.genome.network/allele/PA2825422097", "coordinates": [ { "allele": "A", "end": 12727, "referenceAllele": "G", "start": 12726 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "NM_001042723.1:c.12597G>A" ], "proteinEffect": { "hgvs": "NP_001036188.1:p.Trp4199Ter", "hgvsWellDefined": "NP_001036188.1:p.Trp4199_Ser5033delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009808" }, { "coordinates": [ { "allele": "A", "end": 12658, "referenceAllele": "G", "start": 12657 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_006723317.1:c.12594G>A" ], "proteinEffect": { "hgvs": "XP_006723380.1:p.Trp4198Ter", "hgvsWellDefined": "XP_006723380.1:p.Trp4198_Ser5032delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074994" }, { "coordinates": [ { "allele": "A", "end": 12643, "referenceAllele": "G", "start": 12642 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_006723319.1:c.12579G>A" ], "proteinEffect": { "hgvs": "XP_006723382.1:p.Trp4193Ter", "hgvsWellDefined": "XP_006723382.1:p.Trp4193_Ser5027delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074995" }, { "coordinates": [ { "allele": "A", "end": 12673, "referenceAllele": "G", "start": 12672 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_011527204.1:c.12609G>A" ], "proteinEffect": { "hgvs": "XP_011525506.1:p.Trp4203Ter", "hgvsWellDefined": "XP_011525506.1:p.Trp4203_Ser5037delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094298" }, { "coordinates": [ { "allele": "A", "end": 12676, "referenceAllele": "G", "start": 12675 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_011527205.1:c.12612G>A" ], "proteinEffect": { "hgvs": "XP_011525507.1:p.Trp4204Ter", "hgvsWellDefined": "XP_011525507.1:p.Trp4204_Ser5009delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094299" }, { "coordinates": [ { "allele": "A", "end": 12674, "referenceAllele": "G", "start": 12673 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_006723317.2:c.12594G>A" ], "proteinEffect": { "hgvs": "XP_006723380.1:p.Trp4198Ter", "hgvsWellDefined": "XP_006723380.1:p.Trp4198_Ser5032delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540735" }, { "coordinates": [ { "allele": "A", "end": 12659, "referenceAllele": "G", "start": 12658 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_006723319.2:c.12579G>A" ], "proteinEffect": { "hgvs": "XP_006723382.1:p.Trp4193Ter", "hgvsWellDefined": "XP_006723382.1:p.Trp4193_Ser5027delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540736" }, { "coordinates": [ { "allele": "A", "end": 12692, "referenceAllele": "G", "start": 12691 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_011527205.2:c.12612G>A" ], "proteinEffect": { "hgvs": "XP_011525507.1:p.Trp4204Ter", "hgvsWellDefined": "XP_011525507.1:p.Trp4204_Ser5009delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548573" }, { "@id": "http://reg.genome.network/allele/PA275454", "coordinates": [ { "allele": "A", "end": 12751, "referenceAllele": "G", "start": 12750 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "NM_000540.3:c.12612G>A" ], "proteinEffect": { "hgvs": "NP_000531.2:p.Trp4204Ter", "hgvsWellDefined": "NP_000531.2:p.Trp4204_Ser5038delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674884", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359596.8:c.12612G>A" }, "RefSeq": { "hgvs": "NM_000540.3:c.12612G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352608.2:p.Trp4204Ter" }, "RefSeq": { "hgvs": "NP_000531.2:p.Trp4204Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825422097", "coordinates": [ { "allele": "A", "end": 12736, "referenceAllele": "G", "start": 12735 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "NM_001042723.2:c.12597G>A" ], "proteinEffect": { "hgvs": "NP_001036188.1:p.Trp4199Ter", "hgvsWellDefined": "NP_001036188.1:p.Trp4199_Ser5033delinsGluMetProGlnValLysGluSerLysArgGlnPheIlePheAspValValAsnGluGlyGlyGluAlaGluLysMetGluLeuPheValSerPheCysGluAspThrIlePheGluMetGlnIleAlaAlaGlnIleSerGluProGluGlyGluProGluThrAspGluAspGluGlyAlaGlyAlaAlaGluAlaGlyAlaGluGlyAlaGluGluGlyAlaAlaGlyLeuGluGlyThrAlaAlaThrAlaAlaAlaGlyAlaThrAlaArgValValAlaAlaAlaGlyArgAlaLeuArgGlyLeuSerTyrArgSerLeuArgArgArgValArgArgLeuArgArgLeuThrAlaArgGluAlaAlaThrAlaValAlaAlaLeuLeuTrpAlaAlaValThrArgAlaGlyAlaAlaGlyAlaGlyAlaAlaAlaGlyAlaLeuGlyLeuLeuTrpGlySerLeuPheGlyGlyGlyLeuValGluGlyAlaLysLysValThrValThrGluLeuLeuAlaGlyMetProAspProThrSerAspGluValHisGlyGluGlnProAlaGlyProGlyGlyAspAlaAspGlyGluGlyAlaSerGluGlyAlaGlyAspAlaAlaGluGlyAlaGlyAspGluGluGluAlaValHisGluAlaGlyProGlyGlyAlaAspGlyAlaValAlaValThrAspGlyGlyProPheArgProGluGlyAlaGlyGlyLeuGlyAspMetGlyAspThrThrProAlaGluProProThrProGluGlySerProIleLeuLysArgLysLeuGlyValAspGlyValGluGluGluLeuProProGluProGluProGluProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676082" } ], "type": "nucleotide" }