{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397846175", "communityStandardTitle": [ "NM_000546.6(TP53):c.184G>T (p.Glu62Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=10827", "active": true, "id": "COSM10827" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1664640", "active": true, "id": "COSM1664640" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1664641", "active": true, "id": "COSM1664641" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1664642", "active": true, "id": "COSM1664642" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=608821[alleleid]", "alleleId": 608821, "preferredName": "NM_000546.6(TP53):c.184G>T (p.Glu62Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/617472", "RCV": [ "RCV000754578" ], "variationId": 617472 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7579503C>A?assembly=hg19", "id": "chr17:g.7579503C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7676185C>A?assembly=hg38", "id": "chr17:g.7676185C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1567556752", "rs": 1567556752 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 7676185, "referenceAllele": "C", "start": 7676184 } ], "hgvs": [ "NC_000017.11:g.7676185C>A", "CM000679.2:g.7676185C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 7579503, "referenceAllele": "C", "start": 7579502 } ], "hgvs": [ "NC_000017.10:g.7579503C>A", "CM000679.1:g.7579503C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 7520228, "referenceAllele": "C", "start": 7520227 } ], "hgvs": [ "NC_000017.9:g.7520228C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 16366, "referenceAllele": "G", "start": 16365 } ], "hgvs": [ "NG_017013.2:g.16366G>T", "LRG_321:g.16366G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003369" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000503591.2:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000426252.2:p.Glu62Ter", "hgvsWellDefined": "ENSP00000426252.2:p.Glu62_Asp393delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914179" }, { "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000508793.6:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000424104.2:p.Glu62Ter", "hgvsWellDefined": "ENSP00000424104.2:p.Glu62_Asp393delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914191" }, { "coordinates": [ { "allele": "T", "end": 111, "endIntronDirection": "-", "endIntronOffset": 948, "referenceAllele": "G", "start": 111, "startIntronDirection": "-", "startIntronOffset": 949 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000509690.6:c.-21-949G>T" ], "proteinEffect": { "hgvs": "ENSP00000425104.2:n.-21-949G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914194" }, { "coordinates": [ { "allele": "T", "end": 175, "endIntronDirection": "+", "endIntronOffset": 197, "referenceAllele": "G", "start": 175, "startIntronDirection": "+", "startIntronOffset": 196 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000514944.6:c.96+197G>T" ], "proteinEffect": { "hgvs": "ENSP00000423862.2:n.96+197G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914205" }, { "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "G", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000604348.6:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000473895.2:p.Glu62Ter", "hgvsWellDefined": "ENSP00000473895.2:p.Glu62_Asp386delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914353" }, { "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000269305.9:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000269305.4:p.Glu62Ter", "hgvsWellDefined": "ENSP00000269305.4:p.Glu62_Asp393delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.184G>T" }, "RefSeq": { "hgvs": "NM_000546.6:c.184G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Glu62Ter" }, "RefSeq": { "hgvs": "NP_000537.3:p.Glu62Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000269305.8:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000269305.4:p.Glu62Ter", "hgvsWellDefined": "ENSP00000269305.4:p.Glu62_Asp393delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247246" }, { "coordinates": [ { "allele": "T", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000359597.8:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000352610.4:p.Glu62Ter", "hgvsWellDefined": "ENSP00000352610.4:p.Glu62_Leu343delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnLysThrPheProAlaArgHisGlyGlySerHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247341" }, { "coordinates": [ { "allele": "T", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000413465.6:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000410739.2:p.Glu62Ter", "hgvsWellDefined": "ENSP00000410739.2:p.Glu62_Tyr285delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerArgProArgGlnValAspHisLeuArgSerGlyValGlnAspSerLeuAlaAsnIleAlaLysSerHisLeuTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247363" }, { "coordinates": [ { "allele": "T", "end": 317, "referenceAllele": "G", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000420246.6:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000391127.2:p.Glu62Ter", "hgvsWellDefined": "ENSP00000391127.2:p.Glu62_Cys341delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247205" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000445888.6:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000391478.2:p.Glu62Ter", "hgvsWellDefined": "ENSP00000391478.2:p.Glu62_Asp393delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247156" }, { "coordinates": [ { "allele": "T", "end": 317, "referenceAllele": "G", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000455263.6:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000398846.2:p.Glu62Ter", "hgvsWellDefined": "ENSP00000398846.2:p.Glu62_Ser346delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246735" }, { "coordinates": [ { "allele": "T", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000503591.1:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000426252.1:p.Glu62Ter", "hgvsWellDefined": "ENSP00000426252.1:p.Glu62_Pro128del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247405" }, { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "G", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000505014.5:n.440G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS336915" }, { "coordinates": [ { "allele": "T", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000508793.5:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000424104.1:p.Glu62Ter", "hgvsWellDefined": "ENSP00000424104.1:p.Glu62Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247237" }, { "coordinates": [ { "allele": "T", "end": 111, "endIntronDirection": "-", "endIntronOffset": 948, "referenceAllele": "G", "start": 111, "startIntronDirection": "-", "startIntronOffset": 949 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000509690.5:c.-21-949G>T" ], "proteinEffect": { "hgvs": "ENSP00000425104.1:n.-21-949G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247215" }, { "coordinates": [ { "allele": "T", "end": 175, "endIntronDirection": "+", "endIntronOffset": 197, "referenceAllele": "G", "start": 175, "startIntronDirection": "+", "startIntronOffset": 196 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000514944.5:c.96+197G>T" ], "proteinEffect": { "hgvs": "ENSP00000423862.1:n.96+197G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247340" }, { "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "G", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000604348.5:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000473895.1:p.Glu62Ter", "hgvsWellDefined": "ENSP00000473895.1:p.Glu62_Thr143del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247300" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "G", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610292.4:c.67G>T" ], "proteinEffect": { "hgvs": "ENSP00000478219.1:p.Glu23Ter", "hgvsWellDefined": "ENSP00000478219.1:p.Glu23_Asp354delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400360" }, { "coordinates": [ { "allele": "T", "end": 317, "referenceAllele": "G", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610538.4:c.67G>T" ], "proteinEffect": { "hgvs": "ENSP00000480868.1:p.Glu23Ter", "hgvsWellDefined": "ENSP00000480868.1:p.Glu23_Ser307delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400464" }, { "coordinates": [ { "allele": "T", "end": 184, "referenceAllele": "G", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000615910.4:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000482903.1:p.Glu62Ter", "hgvsWellDefined": "ENSP00000482903.1:p.Glu62_Asp382delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuSerCysLysTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402821" }, { "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000617185.4:c.184G>T" ], "proteinEffect": { "hgvs": "ENSP00000482258.1:p.Glu62Ter", "hgvsWellDefined": "ENSP00000482258.1:p.Glu62_Cys341delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403371" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "G", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000619485.4:c.67G>T" ], "proteinEffect": { "hgvs": "ENSP00000482537.1:p.Glu23Ter", "hgvsWellDefined": "ENSP00000482537.1:p.Glu23_Asp354delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404399" }, { "coordinates": [ { "allele": "T", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000620739.4:c.67G>T" ], "proteinEffect": { "hgvs": "ENSP00000481638.1:p.Glu23Ter", "hgvsWellDefined": "ENSP00000481638.1:p.Glu23_Asp354delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404959" }, { "coordinates": [ { "allele": "T", "end": 317, "referenceAllele": "G", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000622645.4:c.67G>T" ], "proteinEffect": { "hgvs": "ENSP00000482222.1:p.Glu23Ter", "hgvsWellDefined": "ENSP00000482222.1:p.Glu23_Cys302delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405818" }, { "coordinates": [ { "allele": "T", "end": 327, "referenceAllele": "G", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000635293.1:c.67G>T" ], "proteinEffect": { "hgvs": "ENSP00000488924.1:p.Glu23Ter", "hgvsWellDefined": "ENSP00000488924.1:p.Glu23_Ile410delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerArgGluCysGlnThrLeuSerProGlyAspProAspProProLeuSerGluThrPheAsnLeuAsnIleCysProTyrProAlaGlyLysLeuGluLeuLeuLysLeuSerProCysProCysLeuCysArgGlnValThrLeuMetSerPheLeuPhePhePheLeuIlePhePheTyrPheArgLeuTyrTrpGlyIleIleAspProProLysLeuHisThrPheLysValCysSerValMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS408095" }, { "@id": "http://reg.genome.network/allele/PA2579954011", "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.5:c.184G>T", "LRG_321t1:c.184G>T" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Glu62Ter", "hgvsWellDefined": "NP_000537.3:p.Glu62_Asp393delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006605" }, { "@id": "http://reg.genome.network/allele/PA2825598849", "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.2:c.184G>T", "LRG_321t2:c.184G>T" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Glu62Ter", "hgvsWellDefined": "NP_001119584.1:p.Glu62_Asp393delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011490" }, { "@id": "http://reg.genome.network/allele/PA2825602882", "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.2:c.184G>T", "LRG_321t4:c.184G>T" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Glu62Ter", "hgvsWellDefined": "NP_001119585.1:p.Glu62_Ser346delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011491" }, { "@id": "http://reg.genome.network/allele/PA913199657", "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.2:c.184G>T", "LRG_321t3:c.184G>T" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Glu62Ter", "hgvsWellDefined": "NP_001119586.1:p.Glu62_Cys341delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011492" }, { "@id": "http://reg.genome.network/allele/PA2825616649", "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "G", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.1:c.67G>T", "LRG_321t8:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Glu23Ter", "hgvsWellDefined": "NP_001119590.1:p.Glu23_Asp354delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011496" }, { "@id": "http://reg.genome.network/allele/PA2826558997", "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.1:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Glu23Ter", "hgvsWellDefined": "NP_001263624.1:p.Glu23_Ser307delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020927" }, { "@id": "http://reg.genome.network/allele/PA2826560456", "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.1:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Glu23Ter", "hgvsWellDefined": "NP_001263625.1:p.Glu23_Cys302delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020928" }, { "@id": "http://reg.genome.network/allele/PA2826564840", "coordinates": [ { "allele": "T", "end": 386, "referenceAllele": "G", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.1:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Glu23Ter", "hgvsWellDefined": "NP_001263689.1:p.Glu23_Asp354delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020942" }, { "@id": "http://reg.genome.network/allele/PA2826566495", "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.1:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Glu23Ter", "hgvsWellDefined": "NP_001263690.1:p.Glu23_Asp354delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020943" }, { "@id": "http://reg.genome.network/allele/PA2826558997", "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.2:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Glu23Ter", "hgvsWellDefined": "NP_001263624.1:p.Glu23_Ser307delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681331" }, { "@id": "http://reg.genome.network/allele/PA2826560456", "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.2:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Glu23Ter", "hgvsWellDefined": "NP_001263625.1:p.Glu23_Cys302delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681332" }, { "@id": "http://reg.genome.network/allele/PA2826564840", "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.2:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Glu23Ter", "hgvsWellDefined": "NP_001263689.1:p.Glu23_Asp354delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681339" }, { "@id": "http://reg.genome.network/allele/PA2826566495", "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "G", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.2:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Glu23Ter", "hgvsWellDefined": "NP_001263690.1:p.Glu23_Asp354delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681340" }, { "@id": "http://reg.genome.network/allele/PA2579954011", "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.6:c.184G>T" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Glu62Ter", "hgvsWellDefined": "NP_000537.3:p.Glu62_Asp393delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS710844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.184G>T" }, "RefSeq": { "hgvs": "NM_000546.6:c.184G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Glu62Ter" }, "RefSeq": { "hgvs": "NP_000537.3:p.Glu62Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825598849", "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "G", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.3:c.184G>T" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Glu62Ter", "hgvsWellDefined": "NP_001119584.1:p.Glu62_Asp393delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712176" }, { "@id": "http://reg.genome.network/allele/PA2825602882", "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.3:c.184G>T" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Glu62Ter", "hgvsWellDefined": "NP_001119585.1:p.Glu62_Ser346delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712177" }, { "@id": "http://reg.genome.network/allele/PA913199657", "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.3:c.184G>T" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Glu62Ter", "hgvsWellDefined": "NP_001119586.1:p.Glu62_Cys341delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712178" }, { "@id": "http://reg.genome.network/allele/PA2825616649", "coordinates": [ { "allele": "T", "end": 443, "referenceAllele": "G", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.2:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Glu23Ter", "hgvsWellDefined": "NP_001119590.1:p.Glu23_Asp354delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712182" }, { "@id": "http://reg.genome.network/allele/PA2826558997", "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.3:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Glu23Ter", "hgvsWellDefined": "NP_001263624.1:p.Glu23_Ser307delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715405" }, { "@id": "http://reg.genome.network/allele/PA2826560456", "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.3:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Glu23Ter", "hgvsWellDefined": "NP_001263625.1:p.Glu23_Cys302delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715406" }, { "@id": "http://reg.genome.network/allele/PA2826564840", "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.3:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Glu23Ter", "hgvsWellDefined": "NP_001263689.1:p.Glu23_Asp354delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715416" }, { "@id": "http://reg.genome.network/allele/PA2826566495", "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "G", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.3:c.67G>T" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Glu23Ter", "hgvsWellDefined": "NP_001263690.1:p.Glu23_Asp354delinsAlaProArgMetProGluAlaAlaProProValAlaProAlaProAlaAlaProThrProAlaAlaProAlaProAlaProSerTrpProLeuSerSerSerValProSerGlnLysThrTyrGlnGlySerTyrGlyPheArgLeuGlyPheLeuHisSerGlyThrAlaLysSerValThrCysThrTyrSerProAlaLeuAsnLysMetPheCysGlnLeuAlaLysThrCysProValGlnLeuTrpValAspSerThrProProProGlyThrArgValArgAlaMetAlaIleTyrLysGlnSerGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715417" } ], "type": "nucleotide" }