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], "referenceSequence": "http://reg.genome.network/refseq/RS325791" }, { "coordinates": [ { "allele": "T", "end": 522, "referenceAllele": "C", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000487577.5:n.522C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS326112" }, { "@id": "http://reg.genome.network/allele/PA2825567727", "coordinates": [ { "allele": "T", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.2:c.235C>T" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Arg79Ter", "hgvsWellDefined": "NP_001107227.1:p.Arg79_Gln482delinsLeuArgGlyMetAspLeuGluGluThrSerValLeuThrGlnAlaLeuAlaGlnSerGlyGlnGlnLeuGluTrpProGluAlaTrpArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011278" }, { "@id": "http://reg.genome.network/allele/PA2825568266", "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "C", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.2:c.235C>T" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Arg79Ter", "hgvsWellDefined": "NP_001107228.1:p.Arg79_Gln482delinsLeuArgGlyMetAspLeuGluGluThrSerValLeuThrGlnAlaLeuAlaGlnSerGlyGlnGlnLeuGluTrpProGluAlaTrpArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011279" }, { "@id": "http://reg.genome.network/allele/PA2826449355", "coordinates": [ { "allele": "T", "end": 462, "referenceAllele": "C", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257988.1:c.235C>T", "LRG_727t1:c.235C>T" ], "proteinEffect": { "hgvs": "NP_001244917.1:p.Arg79Ter", "hgvsWellDefined": "NP_001244917.1:p.Arg79_Gln482delinsLeuArgGlyMetAspLeuGluGluThrSerValLeuThrGlnAlaLeuAlaGlnSerGlyGlnGlnLeuGluTrpProGluAlaTrpArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019659" }, { "@id": "http://reg.genome.network/allele/PA2826449867", "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257989.1:c.235C>T", "LRG_727t2:c.235C>T" ], "proteinEffect": { "hgvs": "NP_001244918.1:p.Arg79Ter", "hgvsWellDefined": "NP_001244918.1:p.Arg79_Gln487delinsLeuArgGlyMetAspLeuGluGluThrSerValLeuThrGlnAlaLeuAlaGlnSerGlyGlnGlnLeuGluTrpProGluAlaTrpArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspAlaProLeuProAlaGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019660" }, { "@id": "http://reg.genome.network/allele/PA2573219272", "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.4:c.235C>T" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Arg79Ter", "hgvsWellDefined": "NP_001944.1:p.Arg79_Gln482delinsLeuArgGlyMetAspLeuGluGluThrSerValLeuThrGlnAlaLeuAlaGlnSerGlyGlnGlnLeuGluTrpProGluAlaTrpArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027279" }, { "@id": "http://reg.genome.network/allele/PA2825567727", "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "C", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.3:c.235C>T" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Arg79Ter", "hgvsWellDefined": "NP_001107227.1:p.Arg79_Gln482delinsLeuArgGlyMetAspLeuGluGluThrSerValLeuThrGlnAlaLeuAlaGlnSerGlyGlnGlnLeuGluTrpProGluAlaTrpArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676724" }, { "@id": "http://reg.genome.network/allele/PA2825568266", "coordinates": [ { "allele": "T", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.3:c.235C>T" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Arg79Ter", "hgvsWellDefined": "NP_001107228.1:p.Arg79_Gln482delinsLeuArgGlyMetAspLeuGluGluThrSerValLeuThrGlnAlaLeuAlaGlnSerGlyGlnGlnLeuGluTrpProGluAlaTrpArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676725" }, { "@id": "http://reg.genome.network/allele/PA2573219272", "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.5:c.235C>T" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Arg79Ter", "hgvsWellDefined": "NP_001944.1:p.Arg79_Gln482delinsLeuArgGlyMetAspLeuGluGluThrSerValLeuThrGlnAlaLeuAlaGlnSerGlyGlnGlnLeuGluTrpProGluAlaTrpArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.235C>T" }, "RefSeq": { "hgvs": "NM_001953.5:c.235C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Arg79Ter" }, "RefSeq": { "hgvs": "NP_001944.1:p.Arg79Ter" } } } } ], "type": "nucleotide" }