{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA406495500", "communityStandardTitle": [ "NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=548862[alleleid]", "alleleId": 548862, "preferredName": "NM_024301.5(FKRP):c.526C>T (p.Arg176Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/556102", "RCV": [ "RCV000672053", "RCV001868261", "RCV003459634" ], "variationId": 556102 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.47259233C>T?assembly=hg19", "id": "chr19:g.47259233C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.46755976C>T?assembly=hg38", "id": "chr19:g.46755976C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555738502", "rs": 1555738502 } ], "gnomAD_4": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS746230", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.526C>T" }, "RefSeq": { "hgvs": "NM_024301.5:c.526C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Arg176Ter" }, "RefSeq": { "hgvs": "NP_077277.1:p.Arg176Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 823, "referenceAllele": "C", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000318584.9:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000326570.4:p.Arg176Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS257554" }, { "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000391909.7:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000375776.2:p.Arg176Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS274819" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "C", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000594467.5:c.97C>T" ], "proteinEffect": { "hgvs": "ENSP00000471971.1:p.Arg33Ter", "hgvsWellDefined": "ENSP00000471971.1:p.Arg33_Trp35del" }, "referenceSequence": "http://reg.genome.network/refseq/RS394670" }, { "coordinates": [ { "allele": "T", "end": 246, "endIntronDirection": "-", "endIntronOffset": 5856, "referenceAllele": "C", "start": 246, "startIntronDirection": "-", "startIntronOffset": 5857 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000597339.5:n.247-5857C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS395923" }, { "coordinates": [ { "allele": "T", "end": 247, "endIntronDirection": "+", "endIntronOffset": 7311, "referenceAllele": "C", "start": 247, "startIntronDirection": "+", "startIntronOffset": 7310 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "ENST00000600646.5:n.247+7311C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS397379" }, { "@id": "http://reg.genome.network/allele/PA2825388251", "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "C", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.2:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Arg176Ter", "hgvsWellDefined": "NP_001034974.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009459" }, { "@id": "http://reg.genome.network/allele/PA658829602", "coordinates": [ { "allele": "T", "end": 823, "referenceAllele": "C", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.4:c.526C>T" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Arg176Ter", "hgvsWellDefined": 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"referenceSequence": "http://reg.genome.network/refseq/RS037714" }, { "coordinates": [ { "allele": "T", "end": 935, "referenceAllele": "C", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Arg176Ter", "hgvsWellDefined": "XP_005259304.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062349" }, { "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Arg176Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS062350" }, { "coordinates": [ { "allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.3:c.526C>T" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Arg176Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS062351" }, { "coordinates": [ { "allele": "T", "end": 921, "referenceAllele": "C", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259250.3:c.526C>T" ], "proteinEffect": { "hgvs": "XP_005259307.1:p.Arg176Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS062352" }, { "coordinates": [ { "allele": "T", "end": 1217, "referenceAllele": "C", "start": 1216 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527301.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_011525603.1:p.Arg176Ter", "hgvsWellDefined": "XP_011525603.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094395" }, { "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "C", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527302.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_011525604.1:p.Arg176Ter", "hgvsWellDefined": "XP_011525604.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094396" }, { "coordinates": [ { "allele": "T", "end": 1019, "referenceAllele": "C", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527303.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_011525605.1:p.Arg176Ter", "hgvsWellDefined": "XP_011525605.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094397" }, { "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527304.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_011525606.1:p.Arg176Ter", "hgvsWellDefined": "XP_011525606.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094398" }, { "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527305.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_011525607.1:p.Arg176Ter", "hgvsWellDefined": "XP_011525607.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094399" }, { "coordinates": [ { "allele": "T", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Arg176Ter", "hgvsWellDefined": "XP_011525608.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094400" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527307.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_011525609.1:p.Arg176Ter", "hgvsWellDefined": "XP_011525609.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094401" }, { "coordinates": [ { "allele": "T", "end": 936, "referenceAllele": "C", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259247.2:c.526C>T" ], "proteinEffect": { "hgvs": "XP_005259304.1:p.Arg176Ter", "hgvsWellDefined": "XP_005259304.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534968" }, { "coordinates": [ { "allele": "T", "end": 926, "referenceAllele": "C", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259248.2:c.526C>T" ], "proteinEffect": { "hgvs": "XP_005259305.1:p.Arg176Ter", "hgvsWellDefined": "XP_005259305.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534969" }, { "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "C", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_005259249.4:c.526C>T" ], "proteinEffect": { "hgvs": "XP_005259306.1:p.Arg176Ter", "hgvsWellDefined": "XP_005259306.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534970" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_011527306.2:c.526C>T" ], "proteinEffect": { "hgvs": "XP_011525608.1:p.Arg176Ter", "hgvsWellDefined": "XP_011525608.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548617" }, { "coordinates": [ { "allele": "T", "end": 1031, "referenceAllele": "C", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_017027297.2:c.526C>T" ], "proteinEffect": { "hgvs": "XP_016882786.1:p.Arg176Ter", "hgvsWellDefined": "XP_016882786.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS577270" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "XM_024451707.1:c.526C>T" ], "proteinEffect": { "hgvs": "XP_024307475.1:p.Arg176Ter", "hgvsWellDefined": "XP_024307475.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585218" }, { "@id": "http://reg.genome.network/allele/PA2825388251", "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_001039885.3:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001034974.1:p.Arg176Ter", "hgvsWellDefined": "NP_001034974.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675931" }, { "@id": "http://reg.genome.network/allele/PA658829602", "coordinates": [ { "allele": "T", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN017997", "geneNCBI_id": 79147, "geneSymbol": "FKRP", "hgvs": [ "NM_024301.5:c.526C>T" ], "proteinEffect": { "hgvs": "NP_077277.1:p.Arg176Ter", "hgvsWellDefined": "NP_077277.1:p.Arg176_Gly495delinsGluTrpThrAlaArgTyrGlyAlaAlaProAlaAlaProArgCysAspAlaLeuAspGlyAspAlaValValLeuLeuArgAlaArgAspLeuPheAsnLeuSerAlaProLeuAlaArgProValGlyThrSerLeuPheLeuGlnThrAlaLeuArgGlyTrpAlaValGlnLeuLeuAspLeuThrPheAlaAlaAlaArgGlnProProLeuAlaThrAlaHisAlaArgTrpLysAlaGluArgGluGlyArgAlaArgArgAlaAlaLeuLeuArgAlaLeuGlyIleArgLeuValSerTrpGluGlyGlyArgLeuGluTrpPheGlyCysAsnLysGluThrThrArgCysPheGlyThrValValGlyAspThrProAlaTyrLeuTyrGluGluArgTrpThrProProCysCysLeuArgAlaLeuArgGluThrAlaArgTyrValValGlyValLeuGluAlaAlaGlyValArgTyrTrpLeuGluGlyGlySerLeuLeuGlyAlaAlaArgHisGlyAspIleIleProTrpAspTyrAspValAspLeuGlyIleTyrLeuGluAspValGlyAsnCysGluGlnLeuArgGlyAlaGluAlaGlySerValValAspGluArgGlyPheValTrpGluLysAlaValGluGlyAspPhePheArgValGlnTyrSerGluSerAsnHisLeuHisValAspLeuTrpProPheTyrProArgAsnGlyValMetThrLysAspThrTrpLeuAspHisArgGlnAspValGluPheProGluHisPheLeuGlnProLeuValProLeuProPheAlaGlyPheValAlaGlnAlaProAsnAsnTyrArgArgPheLeuGluLeuLysPheGlyProGlyValIleGluAsnProGlnTyrProAsnProAlaLeuLeuSerLeuThrGlySerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698678", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318584.10:c.526C>T" }, "RefSeq": { "hgvs": "NM_024301.5:c.526C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326570.4:p.Arg176Ter" }, "RefSeq": { "hgvs": "NP_077277.1:p.Arg176Ter" } } } } ], "type": "nucleotide" }