{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397839527", "communityStandardTitle": [ "NM_000546.6(TP53):c.676G>A (p.Gly226Ser)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=45607", "active": true, "id": "COSM45607" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=646753[alleleid]", "alleleId": 646753, "preferredName": "NM_000546.6(TP53):c.676G>A (p.Gly226Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/648028", "RCV": [ "RCV000802667", "RCV002290444", "RCV001524380", "RCV002267028" ], "variationId": 648028 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7577605C>T?assembly=hg19", "id": "chr17:g.7577605C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7674287C>T?assembly=hg38", "id": "chr17:g.7674287C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1597365543", "rs": 1597365543 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-7674287-C-T?dataset=gnomad_r4", "id": "17-7674287-C-T", "variant": "17:7674287 C / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7674287, "referenceAllele": "C", "start": 7674286 } ], "hgvs": [ "NC_000017.11:g.7674287C>T", "CM000679.2:g.7674287C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7577605, "referenceAllele": "C", "start": 7577604 } ], "hgvs": [ "NC_000017.10:g.7577605C>T", "CM000679.1:g.7577605C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7518330, "referenceAllele": "C", "start": 7518329 } ], "hgvs": [ "NC_000017.9:g.7518330C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 18264, "referenceAllele": "G", "start": 18263 } ], "hgvs": [ "NG_017013.2:g.18264G>A", "LRG_321:g.18264G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003369" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 858, "referenceAllele": "G", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000503591.2:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000426252.2:p.Gly226Ser", "hgvsWellDefined": "ENSP00000426252.2:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914179" }, { "coordinates": [ { "allele": "A", "end": 958, "referenceAllele": "G", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000508793.6:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000424104.2:p.Gly226Ser", "hgvsWellDefined": "ENSP00000424104.2:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914191" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "G", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000509690.6:c.280G>A" ], "proteinEffect": { "hgvs": "ENSP00000425104.2:p.Gly94Ser", "hgvsWellDefined": "ENSP00000425104.2:p.Gly94Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914194" }, { "coordinates": [ { "allele": "A", "end": 476, "referenceAllele": "G", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000514944.6:c.397G>A" ], "proteinEffect": { "hgvs": "ENSP00000423862.2:p.Gly133Ser", "hgvsWellDefined": "ENSP00000423862.2:p.Gly133Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914205" }, { "coordinates": [ { "allele": "A", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000604348.6:c.655G>A" ], "proteinEffect": { "hgvs": "ENSP00000473895.2:p.Gly219Ser", "hgvsWellDefined": "ENSP00000473895.2:p.Gly219Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914353" }, { "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000269305.9:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000269305.4:p.Gly226Ser", "hgvsWellDefined": "ENSP00000269305.4:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS743105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.676G>A" }, "RefSeq": { "hgvs": "NM_000546.6:c.676G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Gly226Ser" }, "RefSeq": { "hgvs": "NP_000537.3:p.Gly226Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000269305.8:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000269305.4:p.Gly226Ser", "hgvsWellDefined": "ENSP00000269305.4:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247246" }, { "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "G", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000359597.8:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000352610.4:p.Gly226Ser", "hgvsWellDefined": "ENSP00000352610.4:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247341" }, { "coordinates": [ { "allele": "A", "end": 676, "referenceAllele": "G", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000413465.6:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000410739.2:p.Gly226Ser", "hgvsWellDefined": "ENSP00000410739.2:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247363" }, { "coordinates": [ { "allele": "A", "end": 809, "referenceAllele": "G", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000420246.6:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000391127.2:p.Gly226Ser", "hgvsWellDefined": "ENSP00000391127.2:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247205" }, { "coordinates": [ { "allele": "A", "end": 812, "referenceAllele": "G", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000445888.6:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000391478.2:p.Gly226Ser", "hgvsWellDefined": "ENSP00000391478.2:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247156" }, { "coordinates": [ { "allele": "A", "end": 809, "referenceAllele": "G", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000455263.6:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000398846.2:p.Gly226Ser", "hgvsWellDefined": "ENSP00000398846.2:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS246735" }, { "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000504290.5:c.280G>A" ], "proteinEffect": { "hgvs": "ENSP00000484409.1:p.Gly94Ser", "hgvsWellDefined": "ENSP00000484409.1:p.Gly94Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS336391" }, { "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000504937.5:c.280G>A" ], "proteinEffect": { "hgvs": "ENSP00000481179.1:p.Gly94Ser", "hgvsWellDefined": "ENSP00000481179.1:p.Gly94Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS336854" }, { "coordinates": [ { "allele": "A", "end": 412, "referenceAllele": "G", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000509690.5:c.280G>A" ], "proteinEffect": { "hgvs": "ENSP00000425104.1:p.Gly94Ser", "hgvsWellDefined": "ENSP00000425104.1:p.Gly94Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247215" }, { "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000510385.5:c.280G>A" ], "proteinEffect": { "hgvs": "ENSP00000478499.1:p.Gly94Ser", "hgvsWellDefined": "ENSP00000478499.1:p.Gly94Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS340909" }, { "coordinates": [ { "allele": "A", "end": 476, "referenceAllele": "G", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000514944.5:c.397G>A" ], "proteinEffect": { "hgvs": "ENSP00000423862.1:p.Gly133Ser", "hgvsWellDefined": "ENSP00000423862.1:p.Gly133Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247340" }, { "coordinates": [ { "allele": "A", "end": 71, "referenceAllele": "G", "start": 70 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000574684.1:n.71G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS383784" }, { "coordinates": [ { "allele": "A", "end": 926, "referenceAllele": "G", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610292.4:c.559G>A" ], "proteinEffect": { "hgvs": "ENSP00000478219.1:p.Gly187Ser", "hgvsWellDefined": "ENSP00000478219.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS400360" }, { "coordinates": [ { "allele": "A", "end": 809, "referenceAllele": "G", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610538.4:c.559G>A" ], "proteinEffect": { "hgvs": "ENSP00000480868.1:p.Gly187Ser", "hgvsWellDefined": "ENSP00000480868.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS400464" }, { "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610623.4:c.199G>A" ], "proteinEffect": { "hgvs": "ENSP00000477531.1:p.Gly67Ser", "hgvsWellDefined": "ENSP00000477531.1:p.Gly67Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS400503" }, { "coordinates": [ { "allele": "A", "end": 643, "referenceAllele": "G", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000615910.4:c.643G>A" ], "proteinEffect": { "hgvs": "ENSP00000482903.1:p.Gly215Ser", "hgvsWellDefined": "ENSP00000482903.1:p.Gly215Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS402821" }, { "coordinates": [ { "allele": "A", "end": 878, "referenceAllele": "G", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000617185.4:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000482258.1:p.Gly226Ser", "hgvsWellDefined": "ENSP00000482258.1:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS403371" }, { "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000618944.4:c.199G>A" ], "proteinEffect": { "hgvs": "ENSP00000481401.1:p.Gly67Ser", "hgvsWellDefined": "ENSP00000481401.1:p.Gly67Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS404162" }, { "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000619186.4:c.199G>A" ], "proteinEffect": { "hgvs": "ENSP00000484375.1:p.Gly67Ser", "hgvsWellDefined": "ENSP00000484375.1:p.Gly67Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS404266" }, { "coordinates": [ { "allele": "A", "end": 812, "referenceAllele": "G", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000619485.4:c.559G>A" ], "proteinEffect": { "hgvs": "ENSP00000482537.1:p.Gly187Ser", "hgvsWellDefined": "ENSP00000482537.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS404399" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000620739.4:c.559G>A" ], "proteinEffect": { "hgvs": "ENSP00000481638.1:p.Gly187Ser", "hgvsWellDefined": "ENSP00000481638.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS404959" }, { "coordinates": [ { "allele": "A", "end": 809, "referenceAllele": "G", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000622645.4:c.559G>A" ], "proteinEffect": { "hgvs": "ENSP00000482222.1:p.Gly187Ser", "hgvsWellDefined": "ENSP00000482222.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS405818" }, { "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "G", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000635293.1:c.559G>A" ], "proteinEffect": { "hgvs": "ENSP00000488924.1:p.Gly187Ser", "hgvsWellDefined": "ENSP00000488924.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS408095" }, { "@id": "http://reg.genome.network/allele/PA2579935357", "coordinates": [ { "allele": "A", "end": 878, "referenceAllele": "G", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.5:c.676G>A", "LRG_321t1:c.676G>A" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Gly226Ser", "hgvsWellDefined": "NP_000537.3:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006605" }, { "@id": "http://reg.genome.network/allele/PA2825600669", "coordinates": [ { "allele": "A", "end": 875, "referenceAllele": "G", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.2:c.676G>A", "LRG_321t2:c.676G>A" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Gly226Ser", "hgvsWellDefined": "NP_001119584.1:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011490" }, { "@id": "http://reg.genome.network/allele/PA2825604787", "coordinates": [ { "allele": "A", "end": 878, "referenceAllele": "G", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.2:c.676G>A", "LRG_321t4:c.676G>A" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Gly226Ser", "hgvsWellDefined": "NP_001119585.1:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011491" }, { "@id": "http://reg.genome.network/allele/PA2825608249", "coordinates": [ { "allele": "A", "end": 878, "referenceAllele": "G", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.2:c.676G>A", "LRG_321t3:c.676G>A" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Gly226Ser", "hgvsWellDefined": "NP_001119586.1:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011492" }, { "@id": "http://reg.genome.network/allele/PA2825610573", "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126115.1:c.280G>A", "LRG_321t5:c.280G>A" ], "proteinEffect": { "hgvs": "NP_001119587.1:p.Gly94Ser", "hgvsWellDefined": "NP_001119587.1:p.Gly94Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011493" }, { "@id": "http://reg.genome.network/allele/PA2825613340", "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126116.1:c.280G>A", "LRG_321t6:c.280G>A" ], "proteinEffect": { "hgvs": "NP_001119588.1:p.Gly94Ser", "hgvsWellDefined": "NP_001119588.1:p.Gly94Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011494" }, { "@id": "http://reg.genome.network/allele/PA915980264", "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126117.1:c.280G>A", "LRG_321t7:c.280G>A" ], "proteinEffect": { "hgvs": "NP_001119589.1:p.Gly94Ser", "hgvsWellDefined": "NP_001119589.1:p.Gly94Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011495" }, { "@id": "http://reg.genome.network/allele/PA2825618196", "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.1:c.559G>A", "LRG_321t8:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Gly187Ser", "hgvsWellDefined": "NP_001119590.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011496" }, { "@id": "http://reg.genome.network/allele/PA2826559806", "coordinates": [ { "allele": "A", "end": 878, "referenceAllele": "G", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.1:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Gly187Ser", "hgvsWellDefined": "NP_001263624.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS020927" }, { "@id": "http://reg.genome.network/allele/PA2826561265", "coordinates": [ { "allele": "A", "end": 878, "referenceAllele": "G", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.1:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Gly187Ser", "hgvsWellDefined": "NP_001263625.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS020928" }, { "@id": "http://reg.genome.network/allele/PA2826562174", "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.1:c.199G>A" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Gly67Ser", "hgvsWellDefined": "NP_001263626.1:p.Gly67Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS020929" }, { "@id": "http://reg.genome.network/allele/PA2826563299", "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.1:c.199G>A" ], "proteinEffect": { "hgvs": "NP_001263627.1:p.Gly67Ser", "hgvsWellDefined": "NP_001263627.1:p.Gly67Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS020930" }, { "@id": "http://reg.genome.network/allele/PA2826564170", "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "G", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.1:c.199G>A" ], "proteinEffect": { "hgvs": "NP_001263628.1:p.Gly67Ser", "hgvsWellDefined": "NP_001263628.1:p.Gly67Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS020931" }, { "@id": "http://reg.genome.network/allele/PA2826565657", "coordinates": [ { "allele": "A", "end": 878, "referenceAllele": "G", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.1:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Gly187Ser", "hgvsWellDefined": "NP_001263689.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS020942" }, { "@id": "http://reg.genome.network/allele/PA2826567173", "coordinates": [ { "allele": "A", "end": 875, "referenceAllele": "G", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.1:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Gly187Ser", "hgvsWellDefined": "NP_001263690.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS020943" }, { "@id": "http://reg.genome.network/allele/PA2826559806", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.2:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Gly187Ser", "hgvsWellDefined": "NP_001263624.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681331" }, { "@id": "http://reg.genome.network/allele/PA2826561265", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.2:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Gly187Ser", "hgvsWellDefined": "NP_001263625.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681332" }, { "@id": "http://reg.genome.network/allele/PA2826562174", "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "G", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.2:c.199G>A" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Gly67Ser", "hgvsWellDefined": "NP_001263626.1:p.Gly67Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681333" }, { "@id": "http://reg.genome.network/allele/PA2826563299", "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "G", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.2:c.199G>A" ], "proteinEffect": { "hgvs": "NP_001263627.1:p.Gly67Ser", "hgvsWellDefined": "NP_001263627.1:p.Gly67Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681334" }, { "@id": "http://reg.genome.network/allele/PA2826564170", "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "G", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.2:c.199G>A" ], "proteinEffect": { "hgvs": "NP_001263628.1:p.Gly67Ser", "hgvsWellDefined": "NP_001263628.1:p.Gly67Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681335" }, { "@id": "http://reg.genome.network/allele/PA2826565657", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.2:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Gly187Ser", "hgvsWellDefined": "NP_001263689.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681339" }, { "@id": "http://reg.genome.network/allele/PA2826567173", "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "G", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.2:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Gly187Ser", "hgvsWellDefined": "NP_001263690.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681340" }, { "@id": "http://reg.genome.network/allele/PA2579935357", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.6:c.676G>A" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Gly226Ser", "hgvsWellDefined": "NP_000537.3:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS710844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.676G>A" }, "RefSeq": { "hgvs": "NM_000546.6:c.676G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Gly226Ser" }, "RefSeq": { "hgvs": "NP_000537.3:p.Gly226Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825600669", "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "G", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.3:c.676G>A" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Gly226Ser", "hgvsWellDefined": "NP_001119584.1:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS712176" }, { "@id": "http://reg.genome.network/allele/PA2825604787", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.3:c.676G>A" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Gly226Ser", "hgvsWellDefined": "NP_001119585.1:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS712177" }, { "@id": "http://reg.genome.network/allele/PA2825608249", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.3:c.676G>A" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Gly226Ser", "hgvsWellDefined": "NP_001119586.1:p.Gly226Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS712178" }, { "@id": "http://reg.genome.network/allele/PA2825610573", "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "G", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126115.2:c.280G>A" ], "proteinEffect": { "hgvs": "NP_001119587.1:p.Gly94Ser", "hgvsWellDefined": "NP_001119587.1:p.Gly94Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS712179" }, { "@id": "http://reg.genome.network/allele/PA2825613340", "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "G", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126116.2:c.280G>A" ], "proteinEffect": { "hgvs": "NP_001119588.1:p.Gly94Ser", "hgvsWellDefined": "NP_001119588.1:p.Gly94Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS712180" }, { "@id": "http://reg.genome.network/allele/PA915980264", "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "G", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126117.2:c.280G>A" ], "proteinEffect": { "hgvs": "NP_001119589.1:p.Gly94Ser", "hgvsWellDefined": "NP_001119589.1:p.Gly94Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS712181" }, { "@id": "http://reg.genome.network/allele/PA2825618196", "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "G", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.2:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Gly187Ser", "hgvsWellDefined": "NP_001119590.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS712182" }, { "@id": "http://reg.genome.network/allele/PA2826559806", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.3:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Gly187Ser", "hgvsWellDefined": "NP_001263624.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS715405" }, { "@id": "http://reg.genome.network/allele/PA2826561265", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.3:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Gly187Ser", "hgvsWellDefined": "NP_001263625.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS715406" }, { "@id": "http://reg.genome.network/allele/PA2826562174", "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "G", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.3:c.199G>A" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Gly67Ser", "hgvsWellDefined": "NP_001263626.1:p.Gly67Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS715407" }, { "@id": "http://reg.genome.network/allele/PA2826563299", "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "G", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.3:c.199G>A" ], "proteinEffect": { "hgvs": "NP_001263627.1:p.Gly67Ser", "hgvsWellDefined": "NP_001263627.1:p.Gly67Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS715408" }, { "@id": "http://reg.genome.network/allele/PA2826564170", "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "G", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.3:c.199G>A" ], "proteinEffect": { "hgvs": "NP_001263628.1:p.Gly67Ser", "hgvsWellDefined": "NP_001263628.1:p.Gly67Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS715409" }, { "@id": "http://reg.genome.network/allele/PA2826565657", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.3:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Gly187Ser", "hgvsWellDefined": "NP_001263689.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS715416" }, { "@id": "http://reg.genome.network/allele/PA2826567173", "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "G", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.3:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Gly187Ser", "hgvsWellDefined": "NP_001263690.1:p.Gly187Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS715417" } ], "type": "nucleotide" }