{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412202089", "communityStandardTitle": [ "NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1861098[alleleid]", "alleleId": 1861098, "preferredName": "NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1804073", "RCV": [ "RCV002468811", "RCV002573597" ], "variationId": 1804073 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50967659C>T?assembly=hg19", "id": "chr22:g.50967659C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50529230C>T?assembly=hg38", "id": "chr22:g.50529230C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2522546758", "rs": 2522546758 } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS741506", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.323G>A" }, "RefSeq": { "hgvs": "NM_001953.5:c.323G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Trp108Ter" }, "RefSeq": { "hgvs": "NP_001944.1:p.Trp108Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "G", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395680.6:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000379037.1:p.Trp108Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753424" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395681.6:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000379038.1:p.Trp108Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753425" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "G", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000650719.1:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000498276.1:p.Trp108Ter", "hgvsWellDefined": "ENSP00000498276.1:p.Trp108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS771271" }, { "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "G", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000651095.1:n.462G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771466" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000651196.1:c.323G>A" ], 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"referenceAllele": "G", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000652237.1:n.599G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772094" }, { "coordinates": [ { "allele": "A", "end": 71, "referenceAllele": "G", "start": 70 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000652352.1:c.71G>A" ], "proteinEffect": { "hgvs": "ENSP00000498579.1:p.Trp24Ter", "hgvsWellDefined": "ENSP00000498579.1:p.Trp24_Met107delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysGluAlaProTrpIleSerTrpSerLeuPheLeuAspSerMetSerSerArgAlaGlnSerArgCysLysCysCysTrpThrArgArgAlaAlaValSerTrpValArgValSerSerTrpPheLeuArgThrGluSerTyrMetGlnProGluMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS772157" }, { "coordinates": [ { "allele": "A", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000252029.7:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000252029.3:p.Trp108Ter", "hgvsWellDefined": "ENSP00000252029.3:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249780" }, { "coordinates": [ { "allele": "A", "end": 474, "referenceAllele": "G", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395678.7:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000379036.3:p.Trp108Ter", "hgvsWellDefined": "ENSP00000379036.3:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276828" }, { "coordinates": [ { "allele": "A", "end": 464, "referenceAllele": "G", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395680.5:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000379037.1:p.Trp108Ter", "hgvsWellDefined": "ENSP00000379037.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276830" }, { "coordinates": [ { "allele": "A", "end": 445, "referenceAllele": "G", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395681.5:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000379038.1:p.Trp108Ter", "hgvsWellDefined": "ENSP00000379038.1:p.Trp108_Gln487delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspAlaProLeuProAlaGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276831" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "G", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000425169.1:c.323G>A" ], "proteinEffect": { "hgvs": "ENSP00000395875.1:p.Trp108Ter", "hgvsWellDefined": "ENSP00000395875.1:p.Trp108_Leu445del" }, "referenceSequence": "http://reg.genome.network/refseq/RS288630" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "G", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000476284.1:n.448G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317377" }, { "coordinates": [ { "allele": "A", "end": 611, "referenceAllele": "G", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000487162.1:n.611G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325791" }, { "coordinates": [ { "allele": "A", "end": 610, "referenceAllele": "G", "start": 609 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000487577.5:n.610G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326112" }, { "@id": "http://reg.genome.network/allele/PA2825567749", "coordinates": [ { "allele": "A", "end": 527, "referenceAllele": "G", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.2:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Trp108Ter", "hgvsWellDefined": "NP_001107227.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011278" }, { "@id": "http://reg.genome.network/allele/PA2825568288", "coordinates": [ { "allele": "A", "end": 699, "referenceAllele": "G", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.2:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Trp108Ter", "hgvsWellDefined": "NP_001107228.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011279" }, { "@id": "http://reg.genome.network/allele/PA2826449376", "coordinates": [ { "allele": "A", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257988.1:c.323G>A", "LRG_727t1:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001244917.1:p.Trp108Ter", "hgvsWellDefined": "NP_001244917.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019659" }, { "@id": "http://reg.genome.network/allele/PA2826449888", "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257989.1:c.323G>A", "LRG_727t2:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001244918.1:p.Trp108Ter", "hgvsWellDefined": "NP_001244918.1:p.Trp108_Gln487delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspAlaProLeuProAlaGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019660" }, { "@id": "http://reg.genome.network/allele/PA2580252684", "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.4:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Trp108Ter", "hgvsWellDefined": "NP_001944.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027279" }, { "@id": "http://reg.genome.network/allele/PA2825567749", "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "G", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.3:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Trp108Ter", "hgvsWellDefined": "NP_001107227.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676724" }, { "@id": "http://reg.genome.network/allele/PA2825568288", "coordinates": [ { "allele": "A", "end": 626, "referenceAllele": "G", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.3:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Trp108Ter", "hgvsWellDefined": "NP_001107228.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676725" }, { "@id": "http://reg.genome.network/allele/PA2580252684", "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "G", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.5:c.323G>A" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Trp108Ter", "hgvsWellDefined": "NP_001944.1:p.Trp108_Gln482delinsArgGlnGlnLeuValAspLysHisSerThrGlyGlyValGlyAspLysValSerLeuValLeuAlaProAlaLeuAlaAlaCysGlyCysLysValProMetIleSerGlyArgGlyLeuGlyHisThrGlyGlyThrLeuAspLysLeuGluSerIleProGlyPheAsnValIleGlnSerProGluGlnMetGlnValLeuLeuAspGlnAlaGlyCysCysIleValGlyGlnSerGluGlnLeuValProAlaAspGlyIleLeuTyrAlaAlaArgAspValThrAlaThrValAspSerLeuProLeuIleThrAlaSerIleLeuSerLysLysLeuValGluGlyLeuSerAlaLeuValValAspValLysPheGlyGlyAlaAlaValPheProAsnGlnGluGlnAlaArgGluLeuAlaLysThrLeuValGlyValGlyAlaSerLeuGlyLeuArgValAlaAlaAlaLeuThrAlaMetAspLysProLeuGlyArgCysValGlyHisAlaLeuGluValGluGluAlaLeuLeuCysMetAspGlyAlaGlyProProAspLeuArgAspLeuValThrThrLeuGlyGlyAlaLeuLeuTrpLeuSerGlyHisAlaGlyThrGlnAlaGlnGlyAlaAlaArgValAlaAlaAlaLeuAspAspGlySerAlaLeuGlyArgPheGluArgMetLeuAlaAlaGlnGlyValAspProGlyLeuAlaArgAlaLeuCysSerGlySerProAlaGluArgArgGlnLeuLeuProArgAlaArgGluGlnGluGluLeuLeuAlaProAlaAspGlyThrValGluLeuValArgAlaLeuProLeuAlaLeuValLeuHisGluLeuGlyAlaGlyArgSerArgAlaGlyGluProLeuArgLeuGlyValGlyAlaGluLeuLeuValAspValGlyGlnArgLeuArgArgGlyThrProTrpLeuArgValHisArgAspGlyProAlaLeuSerGlyProGlnSerArgAlaLeuGlnGluAlaLeuValLeuSerAspArgAlaProPheAlaAlaProSerProPheAlaGluLeuValLeuProProGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.323G>A" }, "RefSeq": { "hgvs": "NM_001953.5:c.323G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Trp108Ter" }, "RefSeq": { "hgvs": "NP_001944.1:p.Trp108Ter" } } } } ], "type": "nucleotide" }