{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413424050", "communityStandardTitle": [ "NM_000044.6(AR):c.217C>T (p.Gln73Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=485829[alleleid]", "alleleId": 485829, "preferredName": "NM_000044.6(AR):c.217C>T (p.Gln73Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/492776", "RCV": [ "RCV000581586" ], "variationId": 492776 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.66765205C>T?assembly=hg19", "id": "chrX:g.66765205C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.67545363C>T?assembly=hg38", "id": "chrX:g.67545363C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1199988820", "rs": 1199988820 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 67545363, "referenceAllele": "C", "start": 67545362 } ], "hgvs": [ "NC_000023.11:g.67545363C>T", "CM000685.2:g.67545363C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 66765205, "referenceAllele": "C", "start": 66765204 } ], "hgvs": [ "NC_000023.10:g.66765205C>T", "CM000685.1:g.66765205C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 66681930, "referenceAllele": "C", "start": 66681929 } ], "hgvs": [ "NC_000023.9:g.66681930C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 6332, "referenceAllele": "C", "start": 6331 } ], "hgvs": [ "NG_009014.2:g.6332C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001379" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "C", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000396043.4:c.217C>T" ], "proteinEffect": { "hgvs": "ENSP00000379358.4:p.Gln73Ter", "hgvsWellDefined": "ENSP00000379358.4:p.Gln80_His612delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgArgCysCysGluGlnArgGlyIleProArgArgSerSerValProSerSerCysLeuCysLysCysLeuProGluAlaAlaGlyGlyTrpLeuCysThrGlyLeuCysThrGlyAsnGlnGlyAsnGluCysArgValLeuLeuThrLeuProValThrPheSerHisAspThrLeuAlaSerGlnPheGlyAspCysGlnGlyProCysPheAlaHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914009" }, { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "C", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000374690.9:c.217C>T" ], "proteinEffect": { "hgvs": "ENSP00000363822.3:p.Gln73Ter", "hgvsWellDefined": "ENSP00000363822.3:p.Gln80_Gln920delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751477", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374690.9:c.217C>T" }, "RefSeq": { "hgvs": "NM_000044.6:c.217C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363822.3:p.Gln73Ter" }, "RefSeq": { "hgvs": "NP_000035.2:p.Gln73Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 220, "referenceAllele": "C", "start": 219 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000396044.8:c.217C>T" ], "proteinEffect": { "hgvs": "ENSP00000379359.3:p.Gln73Ter", "hgvsWellDefined": "ENSP00000379359.3:p.Gln80_Phe734delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProAspCysGluArgAlaAlaSerValHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753475" }, { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "C", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000612452.5:c.217C>T" ], "proteinEffect": { "hgvs": "ENSP00000484033.2:p.Gln73Ter", "hgvsWellDefined": "ENSP00000484033.2:p.Gln80_Gln920delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761876" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000374690.7:c.217C>T" ], "proteinEffect": { "hgvs": "ENSP00000363822.3:p.Gln73Ter", "hgvsWellDefined": "ENSP00000363822.3:p.Gln80_Gln920delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270362" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "C", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000396044.7:c.217C>T" ], "proteinEffect": { "hgvs": "ENSP00000379359.3:p.Gln73Ter", "hgvsWellDefined": "ENSP00000379359.3:p.Gln80_Phe734delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProAspCysGluArgAlaAlaSerValHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277058" }, { "coordinates": [ { "allele": "T", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000504326.5:c.217C>T" ], "proteinEffect": { "hgvs": "ENSP00000421155.1:p.Gln73Ter", "hgvsWellDefined": "ENSP00000421155.1:p.Gln80_Pro644delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyGluLysPheArgValGlyAsnCysLysHisLeuLysMetThrArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336417" }, { "coordinates": [ { "allele": "T", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000513847.5:n.544C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS343486" }, { "coordinates": [ { "allele": "T", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000514029.5:c.217C>T" ], "proteinEffect": { "hgvs": "ENSP00000425199.1:p.Gln73Ter", "hgvsWellDefined": "ENSP00000425199.1:p.Gln80_Ser600delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyPhePheArgMetAsnLysLeuLysGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343620" }, { "coordinates": [ { "allele": "T", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000612010.4:c.217C>T" ], "proteinEffect": { "hgvs": "ENSP00000482407.1:p.Gln73Ter", "hgvsWellDefined": "ENSP00000482407.1:p.Gln80_Thr642delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyPhePheArgMetAsnLysLeuLysGluSerSerAspThrAsnProLysProTyrCysMetAlaAlaProMetGlyLeuThrGluAsnAsnArgAsnArgLysLysSerTyrArgGluThrAsnLeuLysAlaValSerTrpProLeuAsnHisThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401116" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "C", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000612452.4:c.-354C>T" ], "proteinEffect": { "hgvs": "ENSP00000484033.1:n.-354C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS401311" }, { "coordinates": [ { "allele": "T", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000613054.2:c.217C>T" ], "proteinEffect": { "hgvs": "ENSP00000479013.1:p.Gln73Ter", "hgvsWellDefined": "ENSP00000479013.1:p.Gln80_Lys572delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgAsnThrArgArgLysArgLeuTrpLysLeuIleIleArgSerIleAsnSerCysIleCysSerProArgGluThrGluValProValArgGlnGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401578" }, { "@id": "http://reg.genome.network/allele/PA658716036", "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "C", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_000044.3:c.217C>T" ], "proteinEffect": { "hgvs": "NP_000035.2:p.Gln73Ter", "hgvsWellDefined": "NP_000035.2:p.Gln80_Gln920delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006109" }, { "@id": "http://reg.genome.network/allele/PA658716036", "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_000044.4:c.217C>T" ], "proteinEffect": { "hgvs": "NP_000035.2:p.Gln73Ter", "hgvsWellDefined": "NP_000035.2:p.Gln80_Gln920delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510743" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001011645.3:c.-1567C>T" ], "proteinEffect": { "hgvs": "NP_001011645.1:n.-1567C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511003" }, { "@id": "http://reg.genome.network/allele/PA2827426867", "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001348061.1:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001334990.1:p.Gln73Ter", "hgvsWellDefined": "NP_001334990.1:p.Gln80_Pro644delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyGluLysPheArgValGlyAsnCysLysHisLeuLysMetThrArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517980" }, { "@id": "http://reg.genome.network/allele/PA2827427248", "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001348063.1:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001334992.1:p.Gln73Ter", "hgvsWellDefined": "NP_001334992.1:p.Gln80_Pro648delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaAlaValValValSerGluArgIleLeuArgValPheGlyValSerGluTrpLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517981" }, { "@id": "http://reg.genome.network/allele/PA916029806", "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001348064.1:c.217C>T" ], "proteinEffect": { "hgvs": "NP_001334993.1:p.Gln73Ter", "hgvsWellDefined": "NP_001334993.1:p.Gln80_Lys572delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgAsnThrArgArgLysArgLeuTrpLysLeuIleIleArgSerIleAsnSerCysIleCysSerProArgGluThrGluValProValArgGlnGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517982" }, { "@id": "http://reg.genome.network/allele/PA658716036", "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "C", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_000044.6:c.217C>T" ], "proteinEffect": { "hgvs": "NP_000035.2:p.Gln73Ter", "hgvsWellDefined": "NP_000035.2:p.Gln80_Gln920delinsGluThrSerProArgGlnGlnGlnGlnGlnGlnGlyGluAspGlySerProGlnAlaHisArgArgGlyProThrGlyTyrLeuValLeuAspGluGluGlnGlnProSerGlnProGlnSerAlaLeuGluCysHisProGluArgGlyCysValProGluProGlyAlaAlaValAlaAlaSerLysGlyLeuProGlnGlnLeuProAlaProProAspGluAspAspSerAlaAlaProSerThrLeuSerLeuLeuGlyProThrPheProGlyLeuSerSerCysSerAlaAspLeuLysAspIleLeuSerGluAlaSerThrMetGlnLeuLeuGlnGlnGlnGlnGlnGluAlaValSerGluGlySerSerSerGlyArgAlaArgGluAlaSerGlyAlaProThrSerSerLysAspAsnTyrLeuGlyGlyThrSerThrIleSerAspAsnAlaLysGluLeuCysLysAlaValSerValSerMetGlyLeuGlyValGluAlaLeuGluHisLeuSerProGlyGluGlnLeuArgGlyAspCysMetTyrAlaProLeuLeuGlyValProProAlaValArgProThrProCysAlaProLeuAlaGluCysLysGlySerLeuLeuAspAspSerAlaGlyLysSerThrGluAspThrAlaGluTyrSerProPheLysGlyGlyTyrThrLysGlyLeuGluGlyGluSerLeuGlyCysSerGlySerAlaAlaAlaGlySerSerGlyThrLeuGluLeuProSerThrLeuSerLeuTyrLysSerGlyAlaLeuAspGluAlaAlaAlaTyrGlnSerArgAspTyrTyrAsnPheProLeuAlaLeuAlaGlyProProProProProProProProHisProHisAlaArgIleLysLeuGluAsnProLeuAspTyrGlySerAlaTrpAlaAlaAlaAlaAlaGlnCysArgTyrGlyAspLeuAlaSerLeuHisGlyAlaGlyAlaAlaGlyProGlySerGlySerProSerAlaAlaAlaSerSerSerTrpHisThrLeuPheThrAlaGluGluGlyGlnLeuTyrGlyProCysGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGluAlaGlyAlaValAlaProTyrGlyTyrThrArgProProGlnGlyLeuAlaGlyGlnGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674674", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374690.9:c.217C>T" }, "RefSeq": { "hgvs": "NM_000044.6:c.217C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363822.3:p.Gln73Ter" }, "RefSeq": { "hgvs": "NP_000035.2:p.Gln73Ter" } } } } ], "type": "nucleotide" }