{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5184185", "communityStandardTitle": [ "NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3113376[alleleid]", "alleleId": 3113376, "preferredName": "NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2951981", "RCV": [ "RCV003812668" ], "variationId": 2951981 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-113509957-C-T", "id": "9-113509957-C-T", "variant": "9:113509957 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.113509957C>T?assembly=hg19", "id": "chr9:g.113509957C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.110747677C>T?assembly=hg38", "id": "chr9:g.110747677C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/777482709", "rs": 777482709 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-113509957-C-T?dataset=gnomad_r2_1", "id": "9-113509957-C-T", "variant": "9:113509957 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-110747677-C-T?dataset=gnomad_r3", "id": "9-110747677-C-T", "variant": "9:110747677 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-110747677-C-T?dataset=gnomad_r4", "id": "9-110747677-C-T", "variant": "9:110747677 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 110747677, "referenceAllele": "C", "start": 110747676 } ], "hgvs": [ "NC_000009.12:g.110747677C>T", "CM000671.2:g.110747677C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 113509957, "referenceAllele": "C", "start": 113509956 } ], "hgvs": [ "NC_000009.11:g.113509957C>T", "CM000671.1:g.113509957C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 112549778, "referenceAllele": "C", "start": 112549777 } ], "hgvs": [ "NC_000009.10:g.112549778C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 83907, "referenceAllele": "C", "start": 83906 } ], "hgvs": [ "NG_016016.1:g.83907C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002957" }, { "coordinates": [ { "allele": "T", "end": 83887, "referenceAllele": "C", "start": 83886 } ], "hgvs": [ "NG_016016.2:g.83887C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706116" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000374448.9:c.790C>T" ], "proteinEffect": { "hgvs": "ENSP00000363571.4:p.Arg264Ter", "hgvsWellDefined": "ENSP00000363571.4:p.Arg264_Val869delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751439", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374448.9:c.790C>T" }, "RefSeq": { "hgvs": "NM_005592.4:c.790C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363571.4:p.Arg264Ter" }, "RefSeq": { "hgvs": "NP_005583.1:p.Arg264Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 866, "referenceAllele": "C", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000189978.10:c.820C>T" ], "proteinEffect": { "hgvs": "ENSP00000189978.6:p.Arg274Ter", "hgvsWellDefined": "ENSP00000189978.6:p.Arg274_Val783delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247722" }, { "coordinates": [ { "allele": "T", "end": 866, "referenceAllele": "C", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000374440.7:c.820C>T" ], "proteinEffect": { "hgvs": "ENSP00000363563.4:p.Arg274Ter", "hgvsWellDefined": "ENSP00000363563.4:p.Arg274_Val783delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaAspPheArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270246" }, { "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000374448.8:c.790C>T" ], "proteinEffect": { "hgvs": "ENSP00000363571.4:p.Arg264Ter", "hgvsWellDefined": "ENSP00000363571.4:p.Arg264_Val869delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270249" }, { "coordinates": [ { "allele": "T", "end": 916, "referenceAllele": "C", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000416899.7:c.790C>T" ], "proteinEffect": { "hgvs": "ENSP00000393608.3:p.Arg264Ter", "hgvsWellDefined": "ENSP00000393608.3:p.Arg264_Val861delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS284670" }, { "coordinates": [ { "allele": "T", "end": 212, "referenceAllele": "C", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000634612.1:n.212C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS407883" }, { "@id": "http://reg.genome.network/allele/PA2741840973", "coordinates": [ { "allele": "T", "end": 954, "referenceAllele": "C", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166280.1:c.820C>T" ], "proteinEffect": { "hgvs": "NP_001159752.1:p.Arg274Ter", "hgvsWellDefined": "NP_001159752.1:p.Arg274_Val783delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014857" }, { "@id": "http://reg.genome.network/allele/PA2826029508", "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166281.1:c.790C>T" ], "proteinEffect": { "hgvs": "NP_001159753.1:p.Arg264Ter", "hgvsWellDefined": "NP_001159753.1:p.Arg264_Val773delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014858" }, { "@id": "http://reg.genome.network/allele/PA2829607597", "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_005592.3:c.790C>T" ], "proteinEffect": { "hgvs": "NP_005583.1:p.Arg264Ter", "hgvsWellDefined": "NP_005583.1:p.Arg264_Val869delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030680" }, { "coordinates": [ { "allele": "T", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251994.2:c.820C>T" ], "proteinEffect": { "hgvs": "XP_005252051.1:p.Arg274Ter", "hgvsWellDefined": "XP_005252051.1:p.Arg274_Val879delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059776" }, { "coordinates": [ { "allele": "T", "end": 1179, "referenceAllele": "C", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251995.2:c.820C>T" ], "proteinEffect": { "hgvs": "XP_005252052.1:p.Arg274Ter", "hgvsWellDefined": "XP_005252052.1:p.Arg274_Val871delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059777" }, { "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "C", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251996.2:c.790C>T" ], "proteinEffect": { "hgvs": "XP_005252053.1:p.Arg264Ter", "hgvsWellDefined": "XP_005252053.1:p.Arg264_Val861delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059778" }, { "coordinates": [ { "allele": "T", "end": 1210, "referenceAllele": "C", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_011518707.1:c.850C>T" ], "proteinEffect": { "hgvs": "XP_011517009.1:p.Arg284Ter", "hgvsWellDefined": "XP_011517009.1:p.Arg284_Val889delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085881" }, { "coordinates": [ { "allele": "T", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251994.3:c.820C>T" ], "proteinEffect": { "hgvs": "XP_005252051.1:p.Arg274Ter", "hgvsWellDefined": "XP_005252051.1:p.Arg274_Val879delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533724" }, { "coordinates": [ { "allele": "T", "end": 1535, "referenceAllele": "C", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251995.3:c.820C>T" ], "proteinEffect": { "hgvs": "XP_005252052.1:p.Arg274Ter", "hgvsWellDefined": "XP_005252052.1:p.Arg274_Val871delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533725" }, { "coordinates": [ { "allele": "T", "end": 1504, "referenceAllele": "C", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251996.3:c.790C>T" ], "proteinEffect": { "hgvs": "XP_005252053.1:p.Arg264Ter", "hgvsWellDefined": "XP_005252053.1:p.Arg264_Val861delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533726" }, { "coordinates": [ { "allele": "T", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_017014734.1:c.820C>T" ], "proteinEffect": { "hgvs": "XP_016870223.1:p.Arg274Ter", "hgvsWellDefined": "XP_016870223.1:p.Arg274_Val791delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567617" }, { "@id": "http://reg.genome.network/allele/PA2741840973", "coordinates": [ { "allele": "T", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166280.2:c.820C>T" ], "proteinEffect": { "hgvs": "NP_001159752.1:p.Arg274Ter", "hgvsWellDefined": "NP_001159752.1:p.Arg274_Val783delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678482" }, { "@id": "http://reg.genome.network/allele/PA2826029508", "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166281.2:c.790C>T" ], "proteinEffect": { "hgvs": "NP_001159753.1:p.Arg264Ter", "hgvsWellDefined": "NP_001159753.1:p.Arg264_Val773delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678483" }, { "coordinates": [ { "allele": "T", "end": 196, "referenceAllele": "C", "start": 195 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001369398.1:c.-447C>T" ], "proteinEffect": { "hgvs": "NP_001356327.1:n.-447C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS691623" }, { "@id": "http://reg.genome.network/allele/PA2829607597", "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_005592.4:c.790C>T" ], "proteinEffect": { "hgvs": "NP_005583.1:p.Arg264Ter", "hgvsWellDefined": "NP_005583.1:p.Arg264_Val869delinsValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696468", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374448.9:c.790C>T" }, "RefSeq": { "hgvs": "NM_005592.4:c.790C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363571.4:p.Arg264Ter" }, "RefSeq": { "hgvs": "NP_005583.1:p.Arg264Ter" } } } } ], "type": "nucleotide" }