{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16603072", "communityStandardTitle": [ "NM_000546.6(TP53):c.839G>A (p.Arg280Lys)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=10728", "active": true, "id": "COSM10728" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=129830", "active": true, "id": "COSM129830" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1659144", "active": true, "id": "COSM1659144" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3522694", "active": true, "id": "COSM3522694" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363536[alleleid]", "alleleId": 363536, "preferredName": "NM_000546.6(TP53):c.839G>A (p.Arg280Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376657", "RCV": [ "RCV000418023", "RCV000425366", "RCV000423448", "RCV000423739", "RCV000423933", "RCV000428952", "RCV000428734", "RCV000431165", "RCV000433592", "RCV000433708", "RCV000436148", "RCV000436528", "RCV000438568", "RCV000440980", "RCV000442077", "RCV000444685", "RCV000444610", "RCV000492483", "RCV000633356" ], "variationId": 376657 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7577099C>T?assembly=hg19", "id": "chr17:g.7577099C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7673781C>T?assembly=hg38", "id": "chr17:g.7673781C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121912660", "rs": 121912660 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7673781, "referenceAllele": "C", "start": 7673780 } ], "hgvs": [ "NC_000017.11:g.7673781C>T", "CM000679.2:g.7673781C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7577099, "referenceAllele": "C", "start": 7577098 } ], "hgvs": [ "NC_000017.10:g.7577099C>T", "CM000679.1:g.7577099C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 7517824, "referenceAllele": "C", "start": 7517823 } ], "hgvs": [ "NC_000017.9:g.7517824C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 18770, "referenceAllele": "G", "start": 18769 } ], "hgvs": [ "NG_017013.2:g.18770G>A", "LRG_321:g.18770G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003369" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1021, "referenceAllele": "G", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000503591.2:c.839G>A" ], "proteinEffect": { "hgvs": "ENSP00000426252.2:p.Arg280Lys", "hgvsWellDefined": "ENSP00000426252.2:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914179" }, { "coordinates": [ { "allele": "A", "end": 1121, "referenceAllele": "G", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000508793.6:c.839G>A" ], "proteinEffect": { "hgvs": "ENSP00000424104.2:p.Arg280Lys", "hgvsWellDefined": "ENSP00000424104.2:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914191" }, { "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "G", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000509690.6:c.443G>A" ], "proteinEffect": { "hgvs": "ENSP00000425104.2:p.Arg148Lys", "hgvsWellDefined": "ENSP00000425104.2:p.Arg148Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914194" }, { "coordinates": [ { "allele": "A", "end": 639, "referenceAllele": "G", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000514944.6:c.560G>A" ], "proteinEffect": { "hgvs": "ENSP00000423862.2:p.Arg187Lys", "hgvsWellDefined": "ENSP00000423862.2:p.Arg187Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914205" }, { "coordinates": [ { "allele": "A", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000604348.6:c.818G>A" ], "proteinEffect": { "hgvs": "ENSP00000473895.2:p.Arg273Lys", "hgvsWellDefined": "ENSP00000473895.2:p.Arg273Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914353" }, { "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "G", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000269305.9:c.839G>A" ], "proteinEffect": { "hgvs": "ENSP00000269305.4:p.Arg280Lys", "hgvsWellDefined": "ENSP00000269305.4:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS743105", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.839G>A" }, "RefSeq": { "hgvs": "NM_000546.6:c.839G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Arg280Lys" }, "RefSeq": { "hgvs": "NP_000537.3:p.Arg280Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "G", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000269305.8:c.839G>A" ], "proteinEffect": { "hgvs": "ENSP00000269305.4:p.Arg280Lys", "hgvsWellDefined": "ENSP00000269305.4:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247246" }, { "coordinates": [ { "allele": "A", "end": 839, "referenceAllele": "G", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000359597.8:c.839G>A" ], "proteinEffect": { "hgvs": "ENSP00000352610.4:p.Arg280Lys", "hgvsWellDefined": "ENSP00000352610.4:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247341" }, { "coordinates": [ { "allele": "A", "end": 782, "endIntronDirection": "+", "endIntronOffset": 400, "referenceAllele": "G", "start": 782, "startIntronDirection": "+", "startIntronOffset": 399 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000413465.6:c.782+400G>A" ], "proteinEffect": { "hgvs": "ENSP00000410739.2:n.782+400G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247363" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000420246.6:c.839G>A" ], "proteinEffect": { "hgvs": "ENSP00000391127.2:p.Arg280Lys", "hgvsWellDefined": "ENSP00000391127.2:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247205" }, { "coordinates": [ { "allele": "A", "end": 975, "referenceAllele": "G", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000445888.6:c.839G>A" ], "proteinEffect": { "hgvs": "ENSP00000391478.2:p.Arg280Lys", "hgvsWellDefined": "ENSP00000391478.2:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247156" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000455263.6:c.839G>A" ], "proteinEffect": { "hgvs": "ENSP00000398846.2:p.Arg280Lys", "hgvsWellDefined": "ENSP00000398846.2:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS246735" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000504290.5:c.443G>A" ], "proteinEffect": { "hgvs": "ENSP00000484409.1:p.Arg148Lys", "hgvsWellDefined": "ENSP00000484409.1:p.Arg148Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS336391" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000504937.5:c.443G>A" ], "proteinEffect": { "hgvs": "ENSP00000481179.1:p.Arg148Lys", "hgvsWellDefined": "ENSP00000481179.1:p.Arg148Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS336854" }, { "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "G", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000509690.5:c.443G>A" ], "proteinEffect": { "hgvs": "ENSP00000425104.1:p.Arg148Lys", "hgvsWellDefined": "ENSP00000425104.1:p.Arg148Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247215" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000510385.5:c.443G>A" ], "proteinEffect": { "hgvs": "ENSP00000478499.1:p.Arg148Lys", "hgvsWellDefined": "ENSP00000478499.1:p.Arg148Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS340909" }, { "coordinates": [ { "allele": "A", "end": 1089, "referenceAllele": "G", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610292.4:c.722G>A" ], "proteinEffect": { "hgvs": "ENSP00000478219.1:p.Arg241Lys", "hgvsWellDefined": "ENSP00000478219.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS400360" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610538.4:c.722G>A" ], "proteinEffect": { "hgvs": "ENSP00000480868.1:p.Arg241Lys", "hgvsWellDefined": "ENSP00000480868.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS400464" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000610623.4:c.362G>A" ], "proteinEffect": { "hgvs": "ENSP00000477531.1:p.Arg121Lys", "hgvsWellDefined": "ENSP00000477531.1:p.Arg121Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS400503" }, { "coordinates": [ { "allele": "A", "end": 806, "referenceAllele": "G", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000615910.4:c.806G>A" ], "proteinEffect": { "hgvs": "ENSP00000482903.1:p.Arg269Lys", "hgvsWellDefined": "ENSP00000482903.1:p.Arg269Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS402821" }, { "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000617185.4:c.839G>A" ], "proteinEffect": { "hgvs": "ENSP00000482258.1:p.Arg280Lys", "hgvsWellDefined": "ENSP00000482258.1:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS403371" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000618944.4:c.362G>A" ], "proteinEffect": { "hgvs": "ENSP00000481401.1:p.Arg121Lys", "hgvsWellDefined": "ENSP00000481401.1:p.Arg121Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS404162" }, { "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000619186.4:c.362G>A" ], "proteinEffect": { "hgvs": "ENSP00000484375.1:p.Arg121Lys", "hgvsWellDefined": "ENSP00000484375.1:p.Arg121Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS404266" }, { "coordinates": [ { "allele": "A", "end": 975, "referenceAllele": "G", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000619485.4:c.722G>A" ], "proteinEffect": { "hgvs": "ENSP00000482537.1:p.Arg241Lys", "hgvsWellDefined": "ENSP00000482537.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS404399" }, { "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "G", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000620739.4:c.722G>A" ], "proteinEffect": { "hgvs": "ENSP00000481638.1:p.Arg241Lys", "hgvsWellDefined": "ENSP00000481638.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS404959" }, { "coordinates": [ { "allele": "A", "end": 972, "referenceAllele": "G", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000622645.4:c.722G>A" ], "proteinEffect": { "hgvs": "ENSP00000482222.1:p.Arg241Lys", "hgvsWellDefined": "ENSP00000482222.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS405818" }, { "coordinates": [ { "allele": "A", "end": 982, "referenceAllele": "G", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000635293.1:c.722G>A" ], "proteinEffect": { "hgvs": "ENSP00000488924.1:p.Arg241Lys", "hgvsWellDefined": "ENSP00000488924.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS408095" }, { "@id": "http://reg.genome.network/allele/PA2579934228", "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.5:c.839G>A", "LRG_321t1:c.839G>A" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Arg280Lys", "hgvsWellDefined": "NP_000537.3:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006605" }, { "@id": "http://reg.genome.network/allele/PA2825601537", "coordinates": [ { "allele": "A", "end": 1038, "referenceAllele": "G", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.2:c.839G>A", "LRG_321t2:c.839G>A" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Arg280Lys", "hgvsWellDefined": "NP_001119584.1:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011490" }, { "@id": "http://reg.genome.network/allele/PA2825605487", "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.2:c.839G>A", "LRG_321t4:c.839G>A" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Arg280Lys", "hgvsWellDefined": "NP_001119585.1:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011491" }, { "@id": "http://reg.genome.network/allele/PA645435941", "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.2:c.839G>A", "LRG_321t3:c.839G>A" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Arg280Lys", "hgvsWellDefined": "NP_001119586.1:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011492" }, { "@id": "http://reg.genome.network/allele/PA2825611356", "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126115.1:c.443G>A", "LRG_321t5:c.443G>A" ], "proteinEffect": { "hgvs": "NP_001119587.1:p.Arg148Lys", "hgvsWellDefined": "NP_001119587.1:p.Arg148Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011493" }, { "@id": "http://reg.genome.network/allele/PA2825614109", "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126116.1:c.443G>A", "LRG_321t6:c.443G>A" ], "proteinEffect": { "hgvs": "NP_001119588.1:p.Arg148Lys", "hgvsWellDefined": "NP_001119588.1:p.Arg148Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011494" }, { "@id": "http://reg.genome.network/allele/PA2825615958", "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126117.1:c.443G>A", "LRG_321t7:c.443G>A" ], "proteinEffect": { "hgvs": "NP_001119589.1:p.Arg148Lys", "hgvsWellDefined": "NP_001119589.1:p.Arg148Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011495" }, { "@id": "http://reg.genome.network/allele/PA2825618829", "coordinates": [ { "allele": "A", "end": 1158, "referenceAllele": "G", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.1:c.722G>A", "LRG_321t8:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Arg241Lys", "hgvsWellDefined": "NP_001119590.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011496" }, { "@id": "http://reg.genome.network/allele/PA2826560145", "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.1:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Arg241Lys", "hgvsWellDefined": "NP_001263624.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020927" }, { "@id": "http://reg.genome.network/allele/PA2826561608", "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.1:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Arg241Lys", "hgvsWellDefined": "NP_001263625.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020928" }, { "@id": "http://reg.genome.network/allele/PA2826562516", "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.1:c.362G>A" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Arg121Lys", "hgvsWellDefined": "NP_001263626.1:p.Arg121Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020929" }, { "@id": "http://reg.genome.network/allele/PA2826563643", "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.1:c.362G>A" ], "proteinEffect": { "hgvs": "NP_001263627.1:p.Arg121Lys", "hgvsWellDefined": "NP_001263627.1:p.Arg121Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020930" }, { "@id": "http://reg.genome.network/allele/PA2826564347", "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.1:c.362G>A" ], "proteinEffect": { "hgvs": "NP_001263628.1:p.Arg121Lys", "hgvsWellDefined": "NP_001263628.1:p.Arg121Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020931" }, { "@id": "http://reg.genome.network/allele/PA2826565999", "coordinates": [ { "allele": "A", "end": 1041, "referenceAllele": "G", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.1:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Arg241Lys", "hgvsWellDefined": "NP_001263689.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020942" }, { "@id": "http://reg.genome.network/allele/PA2826567510", "coordinates": [ { "allele": "A", "end": 1038, "referenceAllele": "G", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.1:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Arg241Lys", "hgvsWellDefined": "NP_001263690.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS020943" }, { "@id": "http://reg.genome.network/allele/PA2826560145", "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "G", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.2:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Arg241Lys", "hgvsWellDefined": "NP_001263624.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS681331" }, { "@id": "http://reg.genome.network/allele/PA2826561608", "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "G", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.2:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Arg241Lys", "hgvsWellDefined": "NP_001263625.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS681332" }, { "@id": "http://reg.genome.network/allele/PA2826562516", "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "G", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.2:c.362G>A" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Arg121Lys", "hgvsWellDefined": "NP_001263626.1:p.Arg121Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS681333" }, { "@id": "http://reg.genome.network/allele/PA2826563643", "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "G", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.2:c.362G>A" ], "proteinEffect": { "hgvs": "NP_001263627.1:p.Arg121Lys", "hgvsWellDefined": "NP_001263627.1:p.Arg121Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS681334" }, { "@id": "http://reg.genome.network/allele/PA2826564347", "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "G", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.2:c.362G>A" ], "proteinEffect": { "hgvs": "NP_001263628.1:p.Arg121Lys", "hgvsWellDefined": "NP_001263628.1:p.Arg121Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS681335" }, { "@id": "http://reg.genome.network/allele/PA2826565999", "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "G", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.2:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Arg241Lys", "hgvsWellDefined": "NP_001263689.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS681339" }, { "@id": "http://reg.genome.network/allele/PA2826567510", "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "G", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.2:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Arg241Lys", "hgvsWellDefined": "NP_001263690.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS681340" }, { "@id": "http://reg.genome.network/allele/PA2579934228", "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "G", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.6:c.839G>A" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Arg280Lys", "hgvsWellDefined": "NP_000537.3:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS710844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269305.9:c.839G>A" }, "RefSeq": { "hgvs": "NM_000546.6:c.839G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269305.4:p.Arg280Lys" }, "RefSeq": { "hgvs": "NP_000537.3:p.Arg280Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2825601537", "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "G", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126112.3:c.839G>A" ], "proteinEffect": { "hgvs": "NP_001119584.1:p.Arg280Lys", "hgvsWellDefined": "NP_001119584.1:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712176" }, { "@id": "http://reg.genome.network/allele/PA2825605487", "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "G", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.3:c.839G>A" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Arg280Lys", "hgvsWellDefined": "NP_001119585.1:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712177" }, { "@id": "http://reg.genome.network/allele/PA645435941", "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "G", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.3:c.839G>A" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Arg280Lys", "hgvsWellDefined": "NP_001119586.1:p.Arg280Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712178" }, { "@id": "http://reg.genome.network/allele/PA2825611356", "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "G", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126115.2:c.443G>A" ], "proteinEffect": { "hgvs": "NP_001119587.1:p.Arg148Lys", "hgvsWellDefined": "NP_001119587.1:p.Arg148Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712179" }, { "@id": "http://reg.genome.network/allele/PA2825614109", "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "G", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126116.2:c.443G>A" ], "proteinEffect": { "hgvs": "NP_001119588.1:p.Arg148Lys", "hgvsWellDefined": "NP_001119588.1:p.Arg148Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712180" }, { "@id": "http://reg.genome.network/allele/PA2825615958", "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "G", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126117.2:c.443G>A" ], "proteinEffect": { "hgvs": "NP_001119589.1:p.Arg148Lys", "hgvsWellDefined": "NP_001119589.1:p.Arg148Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712181" }, { "@id": "http://reg.genome.network/allele/PA2825618829", "coordinates": [ { "allele": "A", "end": 1098, "referenceAllele": "G", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.2:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Arg241Lys", "hgvsWellDefined": "NP_001119590.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712182" }, { "@id": "http://reg.genome.network/allele/PA2826560145", "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "G", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.3:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Arg241Lys", "hgvsWellDefined": "NP_001263624.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS715405" }, { "@id": "http://reg.genome.network/allele/PA2826561608", "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "G", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.3:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Arg241Lys", "hgvsWellDefined": "NP_001263625.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS715406" }, { "@id": "http://reg.genome.network/allele/PA2826562516", "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "G", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.3:c.362G>A" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Arg121Lys", "hgvsWellDefined": "NP_001263626.1:p.Arg121Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS715407" }, { "@id": "http://reg.genome.network/allele/PA2826563643", "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "G", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.3:c.362G>A" ], "proteinEffect": { "hgvs": "NP_001263627.1:p.Arg121Lys", "hgvsWellDefined": "NP_001263627.1:p.Arg121Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS715408" }, { "@id": "http://reg.genome.network/allele/PA2826564347", "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "G", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.3:c.362G>A" ], "proteinEffect": { "hgvs": "NP_001263628.1:p.Arg121Lys", "hgvsWellDefined": "NP_001263628.1:p.Arg121Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS715409" }, { "@id": "http://reg.genome.network/allele/PA2826565999", "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "G", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.3:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Arg241Lys", "hgvsWellDefined": "NP_001263689.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS715416" }, { "@id": "http://reg.genome.network/allele/PA2826567510", "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "G", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.3:c.722G>A" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Arg241Lys", "hgvsWellDefined": "NP_001263690.1:p.Arg241Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS715417" } ], "type": "nucleotide" }