{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA000234", "communityStandardTitle": [ "NM_000546.6(TP53):c.481G>A (p.Ala161Thr)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=10739", "active": true, "id": "COSM10739" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=249094", "active": true, "id": "COSM249094" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=249095", "active": true, "id": "COSM249095" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=249096", "active": true, "id": "COSM249096" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=249097", "active": true, "id": "COSM249097" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2744887", "active": true, "id": "COSM2744887" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3378356", "active": true, "id": "COSM3378356" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171616[alleleid]", "alleleId": 171616, "preferredName": "NM_000546.6(TP53):c.481G>A (p.Ala161Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161518", "RCV": [ "RCV000149053", "RCV000161027", "RCV000214033", "RCV000473543", "RCV000761073", "RCV000785328", "RCV003474797" ], "variationId": 161518 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7578449C>T?assembly=hg19", "id": "chr17:g.7578449C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7675131C>T?assembly=hg38", "id": "chr17:g.7675131C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/193920817", "rs": 193920817 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7675131, "referenceAllele": "C", "start": 7675130 } ], "hgvs": [ "NC_000017.11:g.7675131C>T", "CM000679.2:g.7675131C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7578449, "referenceAllele": "C", "start": 7578448 } ], "hgvs": [ "NC_000017.10:g.7578449C>T", "CM000679.1:g.7578449C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7519174, "referenceAllele": "C", "start": 7519173 } ], "hgvs": [ "NC_000017.9:g.7519174C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 17420, "referenceAllele": "G", "start": 17419 } ], "hgvs": [ "NG_017013.2:g.17420G>A", "LRG_321:g.17420G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003369" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 663, "referenceAllele": "G", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000503591.2:c.481G>A" ], "proteinEffect": { "hgvs": "ENSP00000426252.2:p.Ala161Thr", "hgvsWellDefined": "ENSP00000426252.2:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914179" }, { "coordinates": [ { "allele": "A", "end": 763, "referenceAllele": "G", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000508793.6:c.481G>A" ], "proteinEffect": { "hgvs": "ENSP00000424104.2:p.Ala161Thr", "hgvsWellDefined": "ENSP00000424104.2:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914191" }, { "coordinates": [ { "allele": "A", "end": 217, "referenceAllele": "G", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000509690.6:c.85G>A" ], "proteinEffect": { "hgvs": "ENSP00000425104.2:p.Ala29Thr", "hgvsWellDefined": "ENSP00000425104.2:p.Ala29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914194" }, { "coordinates": [ { "allele": "A", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000514944.6:c.202G>A" ], "proteinEffect": { "hgvs": "ENSP00000423862.2:p.Ala68Thr", "hgvsWellDefined": "ENSP00000423862.2:p.Ala68Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914205" }, { "coordinates": [ { "allele": "A", "end": 599, "referenceAllele": "G", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000604348.6:c.460G>A" ], "proteinEffect": { "hgvs": "ENSP00000473895.2:p.Ala154Thr", "hgvsWellDefined": "ENSP00000473895.2:p.Ala154Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914353" }, { "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000269305.9:c.481G>A" ], "proteinEffect": { "hgvs": "ENSP00000269305.4:p.Ala161Thr", "hgvsWellDefined": "ENSP00000269305.4:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS743105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.481G>A" }, "RefSeq": { "hgvs": "NM_000546.6:c.481G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Ala161Thr" }, "RefSeq": { "hgvs": "NP_000537.3:p.Ala161Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 671, "referenceAllele": "G", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000269305.8:c.481G>A" ], "proteinEffect": { "hgvs": "ENSP00000269305.4:p.Ala161Thr", "hgvsWellDefined": "ENSP00000269305.4:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247246" }, { "coordinates": [ { "allele": "A", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000359597.8:c.481G>A" ], "proteinEffect": { "hgvs": "ENSP00000352610.4:p.Ala161Thr", "hgvsWellDefined": "ENSP00000352610.4:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247341" }, { "coordinates": [ { "allele": "A", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000413465.6:c.481G>A" ], "proteinEffect": { "hgvs": "ENSP00000410739.2:p.Ala161Thr", "hgvsWellDefined": "ENSP00000410739.2:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247363" }, { "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000420246.6:c.481G>A" ], "proteinEffect": { "hgvs": "ENSP00000391127.2:p.Ala161Thr", "hgvsWellDefined": "ENSP00000391127.2:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247205" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "G", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000445888.6:c.481G>A" ], "proteinEffect": { "hgvs": "ENSP00000391478.2:p.Ala161Thr", "hgvsWellDefined": "ENSP00000391478.2:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247156" }, { "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000455263.6:c.481G>A" ], "proteinEffect": { "hgvs": "ENSP00000398846.2:p.Ala161Thr", "hgvsWellDefined": "ENSP00000398846.2:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS246735" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000504290.5:c.85G>A" ], "proteinEffect": { "hgvs": "ENSP00000484409.1:p.Ala29Thr", "hgvsWellDefined": "ENSP00000484409.1:p.Ala29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS336391" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000504937.5:c.85G>A" ], "proteinEffect": { "hgvs": "ENSP00000481179.1:p.Ala29Thr", "hgvsWellDefined": "ENSP00000481179.1:p.Ala29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS336854" }, { "coordinates": [ { "allele": "A", "end": 737, "referenceAllele": "G", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000505014.5:n.737G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS336915" }, { "coordinates": [ { "allele": "A", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000508793.5:c.481G>A" ], "proteinEffect": { "hgvs": "ENSP00000424104.1:p.Ala161Thr", "hgvsWellDefined": "ENSP00000424104.1:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247237" }, { "coordinates": [ { "allele": "A", "end": 217, "referenceAllele": "G", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000509690.5:c.85G>A" ], "proteinEffect": { "hgvs": "ENSP00000425104.1:p.Ala29Thr", "hgvsWellDefined": "ENSP00000425104.1:p.Ala29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247215" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000510385.5:c.85G>A" ], "proteinEffect": { "hgvs": "ENSP00000478499.1:p.Ala29Thr", "hgvsWellDefined": "ENSP00000478499.1:p.Ala29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS340909" }, { "coordinates": [ { "allele": "A", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000514944.5:c.202G>A" ], "proteinEffect": { "hgvs": "ENSP00000423862.1:p.Ala68Thr", "hgvsWellDefined": "ENSP00000423862.1:p.Ala68Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247340" }, { "coordinates": [ { "allele": "A", "end": 731, "referenceAllele": "G", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610292.4:c.364G>A" ], "proteinEffect": { "hgvs": "ENSP00000478219.1:p.Ala122Thr", "hgvsWellDefined": "ENSP00000478219.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS400360" }, { "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610538.4:c.364G>A" ], "proteinEffect": { "hgvs": "ENSP00000480868.1:p.Ala122Thr", "hgvsWellDefined": "ENSP00000480868.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS400464" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610623.4:c.4G>A" ], "proteinEffect": { "hgvs": "ENSP00000477531.1:p.Ala2Thr", "hgvsWellDefined": "ENSP00000477531.1:p.Ala2Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS400503" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "G", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000615910.4:c.448G>A" ], "proteinEffect": { "hgvs": "ENSP00000482903.1:p.Ala150Thr", "hgvsWellDefined": "ENSP00000482903.1:p.Ala150Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS402821" }, { "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000617185.4:c.481G>A" ], "proteinEffect": { "hgvs": "ENSP00000482258.1:p.Ala161Thr", "hgvsWellDefined": "ENSP00000482258.1:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS403371" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000618944.4:c.4G>A" ], "proteinEffect": { "hgvs": "ENSP00000481401.1:p.Ala2Thr", "hgvsWellDefined": "ENSP00000481401.1:p.Ala2Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS404162" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000619186.4:c.4G>A" ], "proteinEffect": { "hgvs": "ENSP00000484375.1:p.Ala2Thr", "hgvsWellDefined": "ENSP00000484375.1:p.Ala2Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS404266" }, { "coordinates": [ { "allele": "A", "end": 617, "referenceAllele": "G", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000619485.4:c.364G>A" ], "proteinEffect": { "hgvs": "ENSP00000482537.1:p.Ala122Thr", "hgvsWellDefined": "ENSP00000482537.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS404399" }, { "coordinates": [ { "allele": "A", "end": 671, "referenceAllele": "G", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000620739.4:c.364G>A" ], "proteinEffect": { "hgvs": "ENSP00000481638.1:p.Ala122Thr", "hgvsWellDefined": "ENSP00000481638.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS404959" }, { "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000622645.4:c.364G>A" ], "proteinEffect": { "hgvs": "ENSP00000482222.1:p.Ala122Thr", "hgvsWellDefined": "ENSP00000482222.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS405818" }, { "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "G", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000635293.1:c.364G>A" ], "proteinEffect": { "hgvs": "ENSP00000488924.1:p.Ala122Thr", "hgvsWellDefined": "ENSP00000488924.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS408095" }, { "@id": "http://reg.genome.network/allele/PA174249", "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.5:c.481G>A", "LRG_321t1:c.481G>A" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Ala161Thr", "hgvsWellDefined": "NP_000537.3:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006605" }, { "@id": "http://reg.genome.network/allele/PA174250", "coordinates": [ { "allele": "A", "end": 680, "referenceAllele": "G", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.2:c.481G>A", "LRG_321t2:c.481G>A" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Ala161Thr", "hgvsWellDefined": "NP_001119584.1:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011490" }, { "@id": "http://reg.genome.network/allele/PA174251", "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.2:c.481G>A", "LRG_321t4:c.481G>A" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Ala161Thr", "hgvsWellDefined": "NP_001119585.1:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011491" }, { "@id": "http://reg.genome.network/allele/PA174252", "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.2:c.481G>A", "LRG_321t3:c.481G>A" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Ala161Thr", "hgvsWellDefined": "NP_001119586.1:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011492" }, { "@id": "http://reg.genome.network/allele/PA174253", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126115.1:c.85G>A", "LRG_321t5:c.85G>A" ], "proteinEffect": { "hgvs": "NP_001119587.1:p.Ala29Thr", "hgvsWellDefined": "NP_001119587.1:p.Ala29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011493" }, { "@id": "http://reg.genome.network/allele/PA174254", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126116.1:c.85G>A", "LRG_321t6:c.85G>A" ], "proteinEffect": { "hgvs": "NP_001119588.1:p.Ala29Thr", "hgvsWellDefined": "NP_001119588.1:p.Ala29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011494" }, { "@id": "http://reg.genome.network/allele/PA174255", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126117.1:c.85G>A", "LRG_321t7:c.85G>A" ], "proteinEffect": { "hgvs": "NP_001119589.1:p.Ala29Thr", "hgvsWellDefined": "NP_001119589.1:p.Ala29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011495" }, { "@id": "http://reg.genome.network/allele/PA174248", "coordinates": [ { "allele": "A", "end": 800, "referenceAllele": "G", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.1:c.364G>A", "LRG_321t8:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Ala122Thr", "hgvsWellDefined": "NP_001119590.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011496" }, { "@id": "http://reg.genome.network/allele/PA2826559467", "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.1:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Ala122Thr", "hgvsWellDefined": "NP_001263624.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS020927" }, { "@id": "http://reg.genome.network/allele/PA2826560925", "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.1:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Ala122Thr", "hgvsWellDefined": "NP_001263625.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS020928" }, { "@id": "http://reg.genome.network/allele/PA2826561835", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.1:c.4G>A" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Ala2Thr", "hgvsWellDefined": "NP_001263626.1:p.Ala2Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS020929" }, { "@id": "http://reg.genome.network/allele/PA2826562958", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.1:c.4G>A" ], "proteinEffect": { "hgvs": "NP_001263627.1:p.Ala2Thr", "hgvsWellDefined": "NP_001263627.1:p.Ala2Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS020930" }, { "@id": "http://reg.genome.network/allele/PA916006208", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "G", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.1:c.4G>A" ], "proteinEffect": { "hgvs": "NP_001263628.1:p.Ala2Thr", "hgvsWellDefined": "NP_001263628.1:p.Ala2Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS020931" }, { "@id": "http://reg.genome.network/allele/PA2826565316", "coordinates": [ { "allele": "A", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.1:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Ala122Thr", "hgvsWellDefined": "NP_001263689.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS020942" }, { "@id": "http://reg.genome.network/allele/PA2826566831", "coordinates": [ { "allele": "A", "end": 680, "referenceAllele": "G", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.1:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Ala122Thr", "hgvsWellDefined": "NP_001263690.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS020943" }, { "@id": "http://reg.genome.network/allele/PA2826559467", "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.2:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Ala122Thr", "hgvsWellDefined": "NP_001263624.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS681331" }, { "@id": "http://reg.genome.network/allele/PA2826560925", "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.2:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Ala122Thr", "hgvsWellDefined": "NP_001263625.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS681332" }, { "@id": "http://reg.genome.network/allele/PA2826561835", "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.2:c.4G>A" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Ala2Thr", "hgvsWellDefined": "NP_001263626.1:p.Ala2Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS681333" }, { "@id": "http://reg.genome.network/allele/PA2826562958", "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.2:c.4G>A" ], "proteinEffect": { "hgvs": "NP_001263627.1:p.Ala2Thr", "hgvsWellDefined": "NP_001263627.1:p.Ala2Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS681334" }, { "@id": "http://reg.genome.network/allele/PA916006208", "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.2:c.4G>A" ], "proteinEffect": { "hgvs": "NP_001263628.1:p.Ala2Thr", "hgvsWellDefined": "NP_001263628.1:p.Ala2Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS681335" }, { "@id": "http://reg.genome.network/allele/PA2826565316", "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.2:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Ala122Thr", "hgvsWellDefined": "NP_001263689.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS681339" }, { "@id": "http://reg.genome.network/allele/PA2826566831", "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.2:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Ala122Thr", "hgvsWellDefined": "NP_001263690.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS681340" }, { "@id": "http://reg.genome.network/allele/PA174249", "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.6:c.481G>A" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Ala161Thr", "hgvsWellDefined": "NP_000537.3:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS710844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.481G>A" }, "RefSeq": { "hgvs": "NM_000546.6:c.481G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Ala161Thr" }, "RefSeq": { "hgvs": "NP_000537.3:p.Ala161Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA174250", "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.3:c.481G>A" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Ala161Thr", "hgvsWellDefined": "NP_001119584.1:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712176" }, { "@id": "http://reg.genome.network/allele/PA174251", "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.3:c.481G>A" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Ala161Thr", "hgvsWellDefined": "NP_001119585.1:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712177" }, { "@id": "http://reg.genome.network/allele/PA174252", "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.3:c.481G>A" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Ala161Thr", "hgvsWellDefined": "NP_001119586.1:p.Ala161Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712178" }, { "@id": "http://reg.genome.network/allele/PA174253", "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126115.2:c.85G>A" ], "proteinEffect": { "hgvs": "NP_001119587.1:p.Ala29Thr", "hgvsWellDefined": "NP_001119587.1:p.Ala29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712179" }, { "@id": "http://reg.genome.network/allele/PA174254", "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126116.2:c.85G>A" ], "proteinEffect": { "hgvs": "NP_001119588.1:p.Ala29Thr", "hgvsWellDefined": "NP_001119588.1:p.Ala29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712180" }, { "@id": "http://reg.genome.network/allele/PA174255", "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126117.2:c.85G>A" ], "proteinEffect": { "hgvs": "NP_001119589.1:p.Ala29Thr", "hgvsWellDefined": "NP_001119589.1:p.Ala29Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712181" }, { "@id": "http://reg.genome.network/allele/PA174248", "coordinates": [ { "allele": "A", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.2:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Ala122Thr", "hgvsWellDefined": "NP_001119590.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712182" }, { "@id": "http://reg.genome.network/allele/PA2826559467", "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.3:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Ala122Thr", "hgvsWellDefined": "NP_001263624.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS715405" }, { "@id": "http://reg.genome.network/allele/PA2826560925", "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.3:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Ala122Thr", "hgvsWellDefined": "NP_001263625.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS715406" }, { "@id": "http://reg.genome.network/allele/PA2826561835", "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.3:c.4G>A" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Ala2Thr", "hgvsWellDefined": "NP_001263626.1:p.Ala2Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS715407" }, { "@id": "http://reg.genome.network/allele/PA2826562958", "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.3:c.4G>A" ], "proteinEffect": { "hgvs": "NP_001263627.1:p.Ala2Thr", "hgvsWellDefined": "NP_001263627.1:p.Ala2Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS715408" }, { "@id": "http://reg.genome.network/allele/PA916006208", "coordinates": [ { "allele": "A", "end": 114, "referenceAllele": "G", "start": 113 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.3:c.4G>A" ], "proteinEffect": { "hgvs": "NP_001263628.1:p.Ala2Thr", "hgvsWellDefined": "NP_001263628.1:p.Ala2Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS715409" }, { "@id": "http://reg.genome.network/allele/PA2826565316", "coordinates": [ { "allele": "A", "end": 623, "referenceAllele": "G", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.3:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Ala122Thr", "hgvsWellDefined": "NP_001263689.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS715416" }, { "@id": "http://reg.genome.network/allele/PA2826566831", "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.3:c.364G>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Ala122Thr", "hgvsWellDefined": "NP_001263690.1:p.Ala122Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS715417" } ], "type": "nucleotide" }