{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374474971", "communityStandardTitle": [ "NM_005592.4(MUSK):c.1466C>G (p.Ser489Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2081223[alleleid]", "alleleId": 2081223, "preferredName": "NM_005592.4(MUSK):c.1466C>G (p.Ser489Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2025875", "RCV": [ "RCV002880647" ], "variationId": 2025875 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.113547176C>G?assembly=hg19", "id": "chr9:g.113547176C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.110784896C>G?assembly=hg38", "id": "chr9:g.110784896C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2491146787", "rs": 2491146787 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 110784896, "referenceAllele": "C", "start": 110784895 } ], "hgvs": [ "NC_000009.12:g.110784896C>G", "CM000671.2:g.110784896C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 113547176, "referenceAllele": "C", "start": 113547175 } ], "hgvs": [ "NC_000009.11:g.113547176C>G", "CM000671.1:g.113547176C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 112586997, "referenceAllele": "C", "start": 112586996 } ], "hgvs": [ "NC_000009.10:g.112586997C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 121126, "referenceAllele": "C", "start": 121125 } ], "hgvs": [ "NG_016016.1:g.121126C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002957" }, { "coordinates": [ { "allele": "G", "end": 121106, "referenceAllele": "C", "start": 121105 } ], "hgvs": [ "NG_016016.2:g.121106C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS706116" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1580, "referenceAllele": "C", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000374448.9:c.1466C>G" ], "proteinEffect": { "hgvs": "ENSP00000363571.4:p.Ser489Ter", "hgvsWellDefined": "ENSP00000363571.4:p.Ser489_Val869delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751439", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374448.9:c.1466C>G" }, "RefSeq": { "hgvs": "NM_005592.4:c.1466C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363571.4:p.Ser489Ter" }, "RefSeq": { "hgvs": "NP_005583.1:p.Ser489Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000189978.10:c.1208C>G" ], "proteinEffect": { "hgvs": "ENSP00000189978.6:p.Ser403Ter", "hgvsWellDefined": "ENSP00000189978.6:p.Ser403_Val783delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247722" }, { "coordinates": [ { "allele": "G", "end": 617, "endIntronDirection": "-", "endIntronOffset": 630, "referenceAllele": "C", "start": 617, "startIntronDirection": "-", "startIntronOffset": 631 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000374438.1:n.618-631C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS270244" }, { "coordinates": [ { "allele": "G", "end": 1254, "referenceAllele": "C", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000374440.7:c.1208C>G" ], "proteinEffect": { "hgvs": "ENSP00000363563.4:p.Ser403Ter", "hgvsWellDefined": "ENSP00000363563.4:p.Ser403_Val783delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270246" }, { "coordinates": [ { "allele": "G", "end": 1600, "referenceAllele": "C", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000374448.8:c.1466C>G" ], "proteinEffect": { "hgvs": "ENSP00000363571.4:p.Ser489Ter", "hgvsWellDefined": "ENSP00000363571.4:p.Ser489_Val869delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270249" }, { "coordinates": [ { "allele": "G", "end": 1568, "referenceAllele": "C", "start": 1567 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "ENST00000416899.7:c.1442C>G" ], "proteinEffect": { "hgvs": "ENSP00000393608.3:p.Ser481Ter", "hgvsWellDefined": "ENSP00000393608.3:p.Ser481_Val861delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS284670" }, { "@id": "http://reg.genome.network/allele/PA2826029116", "coordinates": [ { "allele": "G", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166280.1:c.1208C>G" ], "proteinEffect": { "hgvs": "NP_001159752.1:p.Ser403Ter", "hgvsWellDefined": "NP_001159752.1:p.Ser403_Val783delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014857" }, { "@id": "http://reg.genome.network/allele/PA2826029581", "coordinates": [ { "allele": "G", "end": 1312, "referenceAllele": "C", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166281.1:c.1178C>G" ], "proteinEffect": { "hgvs": "NP_001159753.1:p.Ser393Ter", "hgvsWellDefined": "NP_001159753.1:p.Ser393_Val773delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014858" }, { "@id": "http://reg.genome.network/allele/PA2829607661", "coordinates": [ { "allele": "G", "end": 1600, "referenceAllele": "C", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_005592.3:c.1466C>G" ], "proteinEffect": { "hgvs": "NP_005583.1:p.Ser489Ter", "hgvsWellDefined": "NP_005583.1:p.Ser489_Val869delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030680" }, { "coordinates": [ { "allele": "G", "end": 1856, "referenceAllele": "C", "start": 1855 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251994.2:c.1496C>G" ], "proteinEffect": { "hgvs": "XP_005252051.1:p.Ser499Ter", "hgvsWellDefined": "XP_005252051.1:p.Ser499_Val879delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059776" }, { "coordinates": [ { "allele": "G", "end": 1831, "referenceAllele": "C", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251995.2:c.1472C>G" ], "proteinEffect": { "hgvs": "XP_005252052.1:p.Ser491Ter", "hgvsWellDefined": "XP_005252052.1:p.Ser491_Val871delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059777" }, { "coordinates": [ { "allele": "G", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251996.2:c.1442C>G" ], "proteinEffect": { "hgvs": "XP_005252053.1:p.Ser481Ter", "hgvsWellDefined": "XP_005252053.1:p.Ser481_Val861delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059778" }, { "coordinates": [ { "allele": "G", "end": 1886, "referenceAllele": "C", "start": 1885 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_011518707.1:c.1526C>G" ], "proteinEffect": { "hgvs": "XP_011517009.1:p.Ser509Ter", "hgvsWellDefined": "XP_011517009.1:p.Ser509_Val889delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085881" }, { "coordinates": [ { "allele": "G", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_011518708.1:c.230C>G" ], "proteinEffect": { "hgvs": "XP_011517010.1:p.Ser77Ter", "hgvsWellDefined": "XP_011517010.1:p.Ser77_Val457delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085882" }, { "coordinates": [ { "allele": "G", "end": 2212, "referenceAllele": "C", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251994.3:c.1496C>G" ], "proteinEffect": { "hgvs": "XP_005252051.1:p.Ser499Ter", "hgvsWellDefined": "XP_005252051.1:p.Ser499_Val879delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533724" }, { "coordinates": [ { "allele": "G", "end": 2187, "referenceAllele": "C", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251995.3:c.1472C>G" ], "proteinEffect": { "hgvs": "XP_005252052.1:p.Ser491Ter", "hgvsWellDefined": "XP_005252052.1:p.Ser491_Val871delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533725" }, { "coordinates": [ { "allele": "G", "end": 2156, "referenceAllele": "C", "start": 2155 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_005251996.3:c.1442C>G" ], "proteinEffect": { "hgvs": "XP_005252053.1:p.Ser481Ter", "hgvsWellDefined": "XP_005252053.1:p.Ser481_Val861delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533726" }, { "coordinates": [ { "allele": "G", "end": 345, "referenceAllele": "C", "start": 344 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_011518708.2:c.230C>G" ], "proteinEffect": { "hgvs": "XP_011517010.1:p.Ser77Ter", "hgvsWellDefined": "XP_011517010.1:p.Ser77_Val457delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545042" }, { "coordinates": [ { "allele": "G", "end": 1948, "referenceAllele": "C", "start": 1947 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "XM_017014734.1:c.1232C>G" ], "proteinEffect": { "hgvs": "XP_016870223.1:p.Ser411Ter", "hgvsWellDefined": "XP_016870223.1:p.Ser411_Val791delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567617" }, { "coordinates": [ { "allele": "C", "end": 205, "referenceAllele": "G", "start": 204 } ], "hgvs": [ "XR_001746892.1:n.205G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS595142" }, { "@id": "http://reg.genome.network/allele/PA2826029116", "coordinates": [ { "allele": "G", "end": 1322, "referenceAllele": "C", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166280.2:c.1208C>G" ], "proteinEffect": { "hgvs": "NP_001159752.1:p.Ser403Ter", "hgvsWellDefined": "NP_001159752.1:p.Ser403_Val783delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678482" }, { "@id": "http://reg.genome.network/allele/PA2826029581", "coordinates": [ { "allele": "G", "end": 1292, "referenceAllele": "C", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166281.2:c.1178C>G" ], "proteinEffect": { "hgvs": "NP_001159753.1:p.Ser393Ter", "hgvsWellDefined": "NP_001159753.1:p.Ser393_Val773delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678483" }, { "@id": "http://reg.genome.network/allele/PA2580229898", "coordinates": [ { "allele": "G", "end": 848, "referenceAllele": "C", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001369398.1:c.206C>G" ], "proteinEffect": { "hgvs": "NP_001356327.1:p.Ser69Ter", "hgvsWellDefined": "NP_001356327.1:p.Ser69_Val449delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691623" }, { "@id": "http://reg.genome.network/allele/PA2829607661", "coordinates": [ { "allele": "G", "end": 1580, "referenceAllele": "C", "start": 1579 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_005592.4:c.1466C>G" ], "proteinEffect": { "hgvs": "NP_005583.1:p.Ser489Ter", "hgvsWellDefined": "NP_005583.1:p.Ser489_Val869delinsProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696468", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374448.9:c.1466C>G" }, "RefSeq": { "hgvs": "NM_005592.4:c.1466C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363571.4:p.Ser489Ter" }, "RefSeq": { "hgvs": "NP_005583.1:p.Ser489Ter" } } } } ], "type": "nucleotide" }