{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA024049", "communityStandardTitle": [ "NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51266[alleleid]", "alleleId": 51266, "preferredName": "NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42100", "RCV": [ "RCV000034927" ], "variationId": 42100 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.39057593G>T?assembly=hg19", "id": "chr19:g.39057593G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.38566953G>T?assembly=hg38", "id": "chr19:g.38566953G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/143849895", "rs": 143849895 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-38566953-G-T?dataset=gnomad_r4", "id": "19-38566953-G-T", "variant": "19:38566953 G / T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 38566953, "referenceAllele": "G", "start": 38566952 } ], "hgvs": [ "NC_000019.10:g.38566953G>T", "CM000681.2:g.38566953G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 39057593, "referenceAllele": "G", "start": 39057592 } ], "hgvs": [ "NC_000019.9:g.39057593G>T", "CM000681.1:g.39057593G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 43749433, "referenceAllele": "G", "start": 43749432 } ], "hgvs": [ "NC_000019.8:g.43749433G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 138254, "referenceAllele": "G", "start": 138253 } ], "hgvs": [ "NG_008866.1:g.138254G>T", "LRG_766:g.138254G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001261" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "G", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000593677.2:c.416G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826297" }, { "coordinates": [ { "allele": "T", "end": 1847, "endIntronDirection": "-", "endIntronOffset": 819, "referenceAllele": "G", "start": 1847, "startIntronDirection": "-", "startIntronOffset": 820 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000688602.1:c.1848-820G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831718" }, { "coordinates": [ { "allele": "T", "end": 1872, "referenceAllele": "G", "start": 1871 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000689936.1:c.1872G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832452" }, { "coordinates": [ { "allele": "T", "end": 13619, "referenceAllele": "G", "start": 13618 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000359596.8:c.13480G>T" ], "proteinEffect": { "hgvs": "ENSP00000352608.2:p.Glu4494Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS749219", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359596.8:c.13480G>T" }, "RefSeq": { "hgvs": "NM_000540.3:c.13480G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352608.2:p.Glu4494Ter" }, "RefSeq": { "hgvs": "NP_000531.2:p.Glu4494Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 13596, "referenceAllele": "G", "start": 13595 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000355481.8:c.13465G>T" ], "proteinEffect": { "hgvs": "ENSP00000347667.3:p.Glu4489Ter", "hgvsWellDefined": "ENSP00000347667.3:p.Glu4489_Ser5033delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247177" }, { "coordinates": [ { "allele": "T", "end": 13480, "referenceAllele": "G", "start": 13479 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000359596.7:c.13480G>T" ], "proteinEffect": { "hgvs": "ENSP00000352608.2:p.Glu4494Ter", "hgvsWellDefined": "ENSP00000352608.2:p.Glu4494_Ser5038delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246733" }, { "coordinates": [ { "allele": "T", "end": 13569, "referenceAllele": "G", "start": 13568 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000360985.7:c.13462G>T" ], "proteinEffect": { "hgvs": "ENSP00000354254.4:p.Glu4488Ter", "hgvsWellDefined": "ENSP00000354254.4:p.Glu4488_Ser5032delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247225" }, { "coordinates": [ { "allele": "T", "end": 27, "referenceAllele": "G", "start": 26 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "ENST00000593677.1:c.27G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS247398" }, { "@id": "http://reg.genome.network/allele/PA344548", "coordinates": [ { "allele": "T", "end": 13610, "referenceAllele": "G", "start": 13609 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "NM_000540.2:c.13480G>T", "LRG_766t1:c.13480G>T" ], "proteinEffect": { "hgvs": "NP_000531.2:p.Glu4494Ter", "hgvsWellDefined": "NP_000531.2:p.Glu4494_Ser5038delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006598" }, { "@id": "http://reg.genome.network/allele/PA2825422519", "coordinates": [ { "allele": "T", "end": 13595, "referenceAllele": "G", "start": 13594 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "NM_001042723.1:c.13465G>T" ], "proteinEffect": { "hgvs": "NP_001036188.1:p.Glu4489Ter", "hgvsWellDefined": "NP_001036188.1:p.Glu4489_Ser5033delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009808" }, { "coordinates": [ { "allele": "T", "end": 13526, "referenceAllele": "G", "start": 13525 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_006723317.1:c.13462G>T" ], "proteinEffect": { "hgvs": "XP_006723380.1:p.Glu4488Ter", "hgvsWellDefined": "XP_006723380.1:p.Glu4488_Ser5032delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074994" }, { "coordinates": [ { "allele": "T", "end": 13511, "referenceAllele": "G", "start": 13510 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_006723319.1:c.13447G>T" ], "proteinEffect": { "hgvs": "XP_006723382.1:p.Glu4483Ter", "hgvsWellDefined": "XP_006723382.1:p.Glu4483_Ser5027delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074995" }, { "coordinates": [ { "allele": "T", "end": 13541, "referenceAllele": "G", "start": 13540 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_011527204.1:c.13477G>T" ], "proteinEffect": { "hgvs": "XP_011525506.1:p.Glu4493Ter", "hgvsWellDefined": "XP_011525506.1:p.Glu4493_Ser5037delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094298" }, { "coordinates": [ { "allele": "T", "end": 13544, "referenceAllele": "G", "start": 13543 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_011527205.1:c.13480G>T" ], "proteinEffect": { "hgvs": "XP_011525507.1:p.Glu4494Ter", "hgvsWellDefined": "XP_011525507.1:p.Glu4494_Ser5009delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094299" }, { "coordinates": [ { "allele": "T", "end": 13542, "referenceAllele": "G", "start": 13541 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_006723317.2:c.13462G>T" ], "proteinEffect": { "hgvs": "XP_006723380.1:p.Glu4488Ter", "hgvsWellDefined": "XP_006723380.1:p.Glu4488_Ser5032delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540735" }, { "coordinates": [ { "allele": "T", "end": 13527, "referenceAllele": "G", "start": 13526 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_006723319.2:c.13447G>T" ], "proteinEffect": { "hgvs": "XP_006723382.1:p.Glu4483Ter", "hgvsWellDefined": "XP_006723382.1:p.Glu4483_Ser5027delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540736" }, { "coordinates": [ { "allele": "T", "end": 13560, "referenceAllele": "G", "start": 13559 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "XM_011527205.2:c.13480G>T" ], "proteinEffect": { "hgvs": "XP_011525507.1:p.Glu4494Ter", "hgvsWellDefined": "XP_011525507.1:p.Glu4494_Ser5009delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548573" }, { "@id": "http://reg.genome.network/allele/PA344548", "coordinates": [ { "allele": "T", "end": 13619, "referenceAllele": "G", "start": 13618 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "NM_000540.3:c.13480G>T" ], "proteinEffect": { "hgvs": "NP_000531.2:p.Glu4494Ter", "hgvsWellDefined": "NP_000531.2:p.Glu4494_Ser5038delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674884", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359596.8:c.13480G>T" }, "RefSeq": { "hgvs": "NM_000540.3:c.13480G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352608.2:p.Glu4494Ter" }, "RefSeq": { "hgvs": "NP_000531.2:p.Glu4494Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825422519", "coordinates": [ { "allele": "T", "end": 13604, "referenceAllele": "G", "start": 13603 } ], "gene": "http://reg.genome.network/gene/GN010483", "geneNCBI_id": 6261, "geneSymbol": "RYR1", "hgvs": [ "NM_001042723.2:c.13465G>T" ], "proteinEffect": { "hgvs": "NP_001036188.1:p.Glu4489Ter", "hgvsWellDefined": "NP_001036188.1:p.Glu4489_Ser5033delinsProGluProGluLeuGluProGluLysAlaAspAlaGluAsnGlyGluLysGluGluValProGluProThrProGluProProLysLysGlnAlaProProSerProProProLysLysGluGluAlaGlyGlyGluPheTrpGlyGluLeuGluValGlnArgValLysPheLeuAsnTyrLeuSerArgAsnPheTyrThrLeuArgPheLeuAlaLeuPheLeuAlaPheAlaIleAsnPheIleLeuLeuPheTyrLysValSerAspSerProProGlyGluAspAspMetGluGlySerAlaAlaGlyAspValSerGlyAlaGlySerGlyGlySerSerGlyTrpGlyLeuGlyAlaGlyGluGluAlaGluGlyAspGluAspGluAsnMetValTyrTyrPheLeuGluGluSerThrGlyTyrMetGluProAlaLeuArgCysLeuSerLeuLeuHisThrLeuValAlaPheLeuCysIleIleGlyTyrAsnCysLeuLysValProLeuValIlePheLysArgGluLysGluLeuAlaArgLysLeuGluPheAspGlyLeuTyrIleThrGluGlnProGluAspAspAspValLysGlyGlnTrpAspArgLeuValLeuAsnThrProSerPheProSerAsnTyrTrpAspLysPheValLysArgLysValLeuAspLysHisGlyAspIleTyrGlyArgGluArgIleAlaGluLeuLeuGlyMetAspLeuAlaThrLeuGluIleThrAlaHisAsnGluArgLysProAsnProProProGlyLeuLeuThrTrpLeuMetSerIleAspValLysTyrGlnIleTrpLysPheGlyValIlePheThrAspAsnSerPheLeuTyrLeuGlyTrpTyrMetValMetSerLeuLeuGlyHisTyrAsnAsnPhePhePheAlaAlaHisLeuLeuAspIleAlaMetGlyValLysThrLeuArgThrIleLeuSerSerValThrHisAsnGlyLysGlnLeuValMetThrValGlyLeuLeuAlaValValValTyrLeuTyrThrValValAlaPheAsnPhePheArgLysPheTyrAsnLysSerGluAspGluAspGluProAspMetLysCysAspAspMetMetThrCysTyrLeuPheHisMetTyrValGlyValArgAlaGlyGlyGlyIleGlyAspGluIleGluAspProAlaGlyAspGluTyrGluLeuTyrArgValValPheAspIleThrPhePhePhePheValIleValIleLeuLeuAlaIleIleGlnGlyLeuIleIleAspAlaPheGlyGluLeuArgAspGlnGlnGluGlnValLysGluAspMetGluThrLysCysPheIleCysGlyIleGlySerAspTyrPheAspThrThrProHisGlyPheGluThrHisThrLeuGluGluHisAsnLeuAlaAsnTyrMetPhePheLeuMetTyrLeuIleAsnLysAspGluThrGluHisThrGlyGlnGluSerTyrValTrpLysMetTyrGlnGluArgCysTrpAspPhePheProAlaGlyAspCysPheArgLysGlnTyrGluAspGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676082" } ], "type": "nucleotide" }