{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA117606", "communityStandardTitle": [ "NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1095254", "active": true, "id": "COSM1095254" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20609[alleleid]", "alleleId": 20609, "preferredName": "NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5570", "RCV": [ "RCV000005912", "RCV000420322", "RCV001383894", "RCV003242962" ], "variationId": 5570 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.116616326G>A?assembly=hg19", "id": "chr8:g.116616326G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.115604099G>A?assembly=hg38", "id": "chr8:g.115604099G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908431", "rs": 121908431 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 115604099, "referenceAllele": "G", "start": 115604098 } ], "hgvs": [ "NC_000008.11:g.115604099G>A", "CM000670.2:g.115604099G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 116616326, "referenceAllele": "G", "start": 116616325 } ], "hgvs": [ "NC_000008.10:g.116616326G>A", "CM000670.1:g.116616326G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 116685501, "referenceAllele": "G", "start": 116685500 } ], "hgvs": [ "NC_000008.9:g.116685501G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 69903, "referenceAllele": "C", "start": 69902 } ], "hgvs": [ "NG_012383.3:g.69903C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002387" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2422, "referenceAllele": "C", "start": 2421 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000395715.8:c.1870C>T" ], "proteinEffect": { "hgvs": "ENSP00000379065.3:p.Arg624Ter", "hgvsWellDefined": "ENSP00000379065.3:p.Arg624_Glu1294delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753430", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395715.8:c.1870C>T" }, "RefSeq": { "hgvs": "NM_014112.5:c.1870C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379065.3:p.Arg624Ter" }, "RefSeq": { "hgvs": "NP_054831.2:p.Arg624Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1972, "referenceAllele": "C", "start": 1971 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000640765.1:c.1831C>T" ], "proteinEffect": { "hgvs": "ENSP00000492037.1:p.Arg611Ter", "hgvsWellDefined": "ENSP00000492037.1:p.Arg611_Glu1281delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765663" }, { "coordinates": [ { "allele": "T", "end": 1991, "referenceAllele": "C", "start": 1990 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000220888.9:c.1831C>T" ], "proteinEffect": { "hgvs": "ENSP00000220888.5:p.Arg611Ter", "hgvsWellDefined": "ENSP00000220888.5:p.Arg611_Glu1281delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248249" }, { "coordinates": [ { "allele": "T", "end": 2448, "referenceAllele": "C", "start": 2447 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000395715.7:c.1870C>T" ], "proteinEffect": { "hgvs": "ENSP00000379065.3:p.Arg624Ter", "hgvsWellDefined": "ENSP00000379065.3:p.Arg624_Glu1294delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276851" }, { "coordinates": [ { "allele": "T", "end": 1389, "endIntronDirection": "-", "endIntronOffset": 48, "referenceAllele": "C", "start": 1389, "startIntronDirection": "-", "startIntronOffset": 49 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000517323.2:c.1292-49C>T" ], "proteinEffect": { "hgvs": "ENSP00000430803.2:n.1292-49C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS345031" }, { "coordinates": [ { "allele": "T", "end": 1153, "endIntronDirection": "-", "endIntronOffset": 48, "referenceAllele": "C", "start": 1153, "startIntronDirection": "-", "startIntronOffset": 49 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000519076.5:c.1142-49C>T" ], "proteinEffect": { "hgvs": "ENSP00000428910.1:n.1142-49C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS346388" }, { "coordinates": [ { "allele": "T", "end": 2192, "referenceAllele": "C", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000519674.1:c.1831C>T" ], "proteinEffect": { "hgvs": "ENSP00000429174.1:p.Arg611Ter", "hgvsWellDefined": "ENSP00000429174.1:p.Arg611_Leu902delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgValPheGluSerAlaTrpMetThrProGluGluGlnPheSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS346880" }, { "coordinates": [ { "allele": "T", "end": 1967, "referenceAllele": "C", "start": 1966 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "ENST00000520276.5:c.1843C>T" ], "proteinEffect": { "hgvs": "ENSP00000428680.1:p.Arg615Ter", "hgvsWellDefined": "ENSP00000428680.1:p.Arg615_Glu1285delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS347350" }, { "@id": "http://reg.genome.network/allele/PA2826672942", "coordinates": [ { "allele": "T", "end": 1972, "referenceAllele": "C", "start": 1971 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.2:c.1843C>T" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Arg615Ter", "hgvsWellDefined": "NP_001269831.1:p.Arg615_Glu1285delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022321" }, { "@id": "http://reg.genome.network/allele/PA2826673381", "coordinates": [ { "allele": "T", "end": 2461, "referenceAllele": "C", "start": 2460 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282903.2:c.1849C>T" ], "proteinEffect": { "hgvs": "NP_001269832.1:p.Arg617Ter", "hgvsWellDefined": "NP_001269832.1:p.Arg617_Glu1287delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022322" }, { "@id": "http://reg.genome.network/allele/PA117607", "coordinates": [ { "allele": "T", "end": 2475, "referenceAllele": "C", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_014112.4:c.1870C>T" ], "proteinEffect": { "hgvs": "NP_054831.2:p.Arg624Ter", "hgvsWellDefined": "NP_054831.2:p.Arg624_Glu1294delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032930" }, { "coordinates": [ { "allele": "T", "end": 2290, "referenceAllele": "C", "start": 2289 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_005251049.2:c.1831C>T" ], "proteinEffect": { "hgvs": "XP_005251106.1:p.Arg611Ter", "hgvsWellDefined": "XP_005251106.1:p.Arg611_Glu1281delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059401" }, { "coordinates": [ { "allele": "T", "end": 2412, "referenceAllele": "C", "start": 2411 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_006716625.1:c.1870C>T" ], "proteinEffect": { "hgvs": "XP_006716688.1:p.Arg624Ter", "hgvsWellDefined": "XP_006716688.1:p.Arg624_Glu1294delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071772" }, { "coordinates": [ { "allele": "T", "end": 2545, "referenceAllele": "C", "start": 2544 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517264.1:c.1870C>T" ], "proteinEffect": { "hgvs": "XP_011515566.1:p.Arg624Ter", "hgvsWellDefined": "XP_011515566.1:p.Arg624_Glu1294delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084463" }, { "coordinates": [ { "allele": "T", "end": 2684, "referenceAllele": "C", "start": 2683 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517265.1:c.1870C>T" ], "proteinEffect": { "hgvs": "XP_011515567.1:p.Arg624Ter", "hgvsWellDefined": "XP_011515567.1:p.Arg624_Glu1294delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084464" }, { "coordinates": [ { "allele": "T", "end": 2227, "referenceAllele": "C", "start": 2226 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517266.1:c.1870C>T" ], "proteinEffect": { "hgvs": "XP_011515568.1:p.Arg624Ter", "hgvsWellDefined": "XP_011515568.1:p.Arg624_Glu1294delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084465" }, { "coordinates": [ { "allele": "T", "end": 2398, "referenceAllele": "C", "start": 2397 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517267.1:c.1849C>T" ], "proteinEffect": { "hgvs": "XP_011515569.1:p.Arg617Ter", "hgvsWellDefined": "XP_011515569.1:p.Arg617_Glu1287delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084466" }, { "coordinates": [ { "allele": "T", "end": 2387, "referenceAllele": "C", "start": 2386 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517268.1:c.1831C>T" ], "proteinEffect": { "hgvs": "XP_011515570.1:p.Arg611Ter", "hgvsWellDefined": "XP_011515570.1:p.Arg611_Glu1281delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084467" }, { "@id": "http://reg.genome.network/allele/PA2827334688", "coordinates": [ { "allele": "T", "end": 2317, "referenceAllele": "C", "start": 2316 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001330599.1:c.1831C>T" ], "proteinEffect": { "hgvs": "NP_001317528.1:p.Arg611Ter", "hgvsWellDefined": "NP_001317528.1:p.Arg611_Glu1281delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516944" }, { "coordinates": [ { "allele": "T", "end": 2616, "referenceAllele": "C", "start": 2615 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517264.2:c.1870C>T" ], "proteinEffect": { "hgvs": "XP_011515566.1:p.Arg624Ter", "hgvsWellDefined": "XP_011515566.1:p.Arg624_Glu1294delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544481" }, { "coordinates": [ { "allele": "T", "end": 2284, "referenceAllele": "C", "start": 2283 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517266.3:c.1870C>T" ], "proteinEffect": { "hgvs": "XP_011515568.1:p.Arg624Ter", "hgvsWellDefined": "XP_011515568.1:p.Arg624_Glu1294delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544482" }, { "coordinates": [ { "allele": "T", "end": 2458, "referenceAllele": "C", "start": 2457 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "XM_011517268.2:c.1831C>T" ], "proteinEffect": { "hgvs": "XP_011515570.1:p.Arg611Ter", "hgvsWellDefined": "XP_011515570.1:p.Arg611_Glu1281delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544483" }, { "@id": "http://reg.genome.network/allele/PA2826672942", "coordinates": [ { "allele": "T", "end": 1973, "referenceAllele": "C", "start": 1972 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282902.3:c.1843C>T" ], "proteinEffect": { "hgvs": "NP_001269831.1:p.Arg615Ter", "hgvsWellDefined": "NP_001269831.1:p.Arg615_Glu1285delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681936" }, { "@id": "http://reg.genome.network/allele/PA2826673381", "coordinates": [ { "allele": "T", "end": 2408, "referenceAllele": "C", "start": 2407 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001282903.3:c.1849C>T" ], "proteinEffect": { "hgvs": "NP_001269832.1:p.Arg617Ter", "hgvsWellDefined": "NP_001269832.1:p.Arg617_Glu1287delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681937" }, { "@id": "http://reg.genome.network/allele/PA2827334688", "coordinates": [ { "allele": "T", "end": 2264, "referenceAllele": "C", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_001330599.2:c.1831C>T" ], "proteinEffect": { "hgvs": "NP_001317528.1:p.Arg611Ter", "hgvsWellDefined": "NP_001317528.1:p.Arg611_Glu1281delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687024" }, { "@id": "http://reg.genome.network/allele/PA117607", "coordinates": [ { "allele": "T", "end": 2422, "referenceAllele": "C", "start": 2421 } ], "gene": "http://reg.genome.network/gene/GN012340", "geneNCBI_id": 7227, "geneSymbol": "TRPS1", "hgvs": [ "NM_014112.5:c.1870C>T" ], "proteinEffect": { "hgvs": "NP_054831.2:p.Arg624Ter", "hgvsWellDefined": "NP_054831.2:p.Arg624_Glu1294delinsValLysHisGlnCysHisGlnCysSerPheThrThrProAspValAspValLeuLeuPheHisTyrGluSerValHisGluSerGlnAlaSerAspValLysGlnGluAlaAsnHisLeuGlnGlySerAspGlyGlnGlnSerValLysGluSerLysGluHisSerCysThrLysCysAspPheIleThrGlnValGluGluGluIleSerArgHisTyrArgArgAlaHisSerCysTyrLysCysArgGlnCysSerPheThrAlaAlaAspThrGlnSerLeuLeuGluHisPheAsnThrValHisCysGlnGluGlnAspIleThrThrAlaAsnGlyGluGluAspGlyHisAlaIleSerThrIleLysGluGluProLysIleAspPheArgValTyrAsnLeuLeuThrProAspSerLysMetGlyGluProValSerGluSerValValLysArgGluLysLeuGluGluLysAspGlyLeuLysGluLysValTrpThrGluSerSerSerAspAspLeuArgAsnValThrTrpArgGlyAlaAspIleLeuArgGlySerProSerTyrThrGlnAlaSerLeuGlyLeuLeuThrProValSerGlyThrGlnGluGlnThrLysThrLeuArgAspSerProAsnValGluAlaAlaHisLeuAlaArgProIleTyrGlyLeuAlaValGluThrLysGlyPheLeuGlnGlyAlaProAlaGlyGlyGluLysSerGlyAlaLeuProGlnGlnTyrProAlaSerGlyGluAsnLysSerLysAspGluSerGlnSerLeuLeuArgArgArgArgGlySerGlyValPheCysAlaAsnCysLeuThrThrLysThrSerLeuTrpArgLysAsnAlaAsnGlyGlyTyrValCysAsnAlaCysGlyLeuTyrGlnLysLeuHisSerThrProArgProLeuAsnIleIleLysGlnAsnAsnGlyGluGlnIleIleArgArgArgThrArgLysArgLeuAsnProGluAlaLeuGlnAlaGluGlnLeuAsnLysGlnGlnArgGlySerAsnGluGluGlnValAsnGlySerProLeuGluArgArgSerGluAspHisLeuThrGluSerHisGlnArgGluIleProLeuProSerLeuSerLysTyrGluAlaGlnGlySerLeuThrLysSerHisSerAlaGlnGlnProValLeuValSerGlnThrLeuAspIleHisLysArgMetGlnProLeuHisIleGlnIleLysSerProGlnGluSerThrGlyAspProGlyAsnSerSerSerValSerGluGlyLysGlySerSerGluArgGlySerProIleGluLysTyrMetArgProAlaLysHisProAsnTyrSerProProGlySerProIleGluLysTyrGlnTyrProLeuPheGlyLeuProPheValHisAsnAspPheGlnSerGluAlaAspTrpLeuArgPheTrpSerLysTyrLysLeuSerValProGlyAsnProHisTyrLeuSerHisValProGlyLeuProAsnProCysGlnAsnTyrValProTyrProThrPheAsnLeuProProHisPheSerAlaValGlySerAspAsnAspIleProLeuAspLeuAlaIleLysHisSerArgProGlyProThrAlaAsnGlyAlaSerLysGluLysThrLysAlaProProAsnValLysAsnGluGlyProLeuAsnValValLysThrGluLysValAspArgSerThrGlnAspGluLeuSerThrLysCysValHisCysGlyIleValPheLeuAspGluValMetTyrAlaLeuHisMetSerCysHisGlyAspSerGlyProPheGlnCysSerIleCysGlnHisLeuCysThrAspLysTyrAspPheThrThrHisIleGlnArgGlyLeuHisArgAsnAsnAlaGlnValGluLysAsnGlyLysProLysGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697185", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395715.8:c.1870C>T" }, "RefSeq": { "hgvs": "NM_014112.5:c.1870C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379065.3:p.Arg624Ter" }, "RefSeq": { "hgvs": "NP_054831.2:p.Arg624Ter" } } } } ], "type": "nucleotide" }