{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA333572",
  "communityStandardTitle": [
    "NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=760",
        "active": true,
        "id": "COSM760"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=125369",
        "active": true,
        "id": "COSM125369"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40609[alleleid]",
        "alleleId": 40609,
        "preferredName": "NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31944",
        "RCV": [
          "RCV000024622",
          "RCV000151649",
          "RCV000154513",
          "RCV000419905",
          "RCV000420078",
          "RCV000416776",
          "RCV000426691",
          "RCV000419440",
          "RCV000433007",
          "RCV000431000",
          "RCV000431872",
          "RCV000421639",
          "RCV000436932",
          "RCV000438815",
          "RCV000425548",
          "RCV000441707",
          "RCV000442348",
          "RCV000430763",
          "RCV000435811",
          "RCV000445059",
          "RCV000709693",
          "RCV001255687",
          "RCV001728093",
          "RCV001730477",
          "RCV001327962",
          "RCV001836714",
          "RCV003458190",
          "RCV003987334",
          "RCV002513230",
          "RCV004532404",
          "RCV004527296",
          "RCV003764635"
        ],
        "variationId": 31944
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.178936082G>A?assembly=hg19",
        "id": "chr3:g.178936082G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.179218294G>A?assembly=hg38",
        "id": "chr3:g.179218294G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913273",
        "rs": 121913273
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 179218294,
          "referenceAllele": "G",
          "start": 179218293
        }
      ],
      "hgvs": [
        "NC_000003.12:g.179218294G>A",
        "CM000665.2:g.179218294G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 178936082,
          "referenceAllele": "G",
          "start": 178936081
        }
      ],
      "hgvs": [
        "NC_000003.11:g.178936082G>A",
        "CM000665.1:g.178936082G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 180418776,
          "referenceAllele": "G",
          "start": 180418775
        }
      ],
      "hgvs": [
        "NC_000003.10:g.180418776G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74772,
          "referenceAllele": "G",
          "start": 74771
        }
      ],
      "hgvs": [
        "NG_012113.2:g.74772G>A",
        "LRG_310:g.74772G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002196"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1947,
          "referenceAllele": "G",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000263967.4:c.1624G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263967.3:p.Glu542Lys",
        "hgvsWellDefined": "ENSP00000263967.3:p.Glu542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742593",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263967.4:c.1624G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006218.4:c.1624G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263967.3:p.Glu542Lys"
          },
          "RefSeq": {
            "hgvs": "NP_006209.2:p.Glu542Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 86,
          "referenceAllele": "G",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000462255.2:n.86G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000643187.1:c.1624G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493507.1:p.Glu542Lys",
        "hgvsWellDefined": "ENSP00000493507.1:p.Glu542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "referenceAllele": "G",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000674534.1:n.1378G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "referenceAllele": "G",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000674622.1:c.127G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502417.1:p.Glu43Lys",
        "hgvsWellDefined": "ENSP00000502417.1:p.Glu43Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000675467.1:n.4431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1845,
          "referenceAllele": "G",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000675786.1:c.*191G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502323.1:n.*191G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1781,
          "referenceAllele": "G",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000263967.3:c.1624G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263967.3:p.Glu542Lys",
        "hgvsWellDefined": "ENSP00000263967.3:p.Glu542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108483",
      "coordinates": [
        {
          "allele": "A",
          "end": 1781,
          "referenceAllele": "G",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NM_006218.2:c.1624G>A",
        "LRG_310t1:c.1624G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006209.2:p.Glu542Lys",
        "hgvsWellDefined": "NP_006209.2:p.Glu542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1806,
          "referenceAllele": "G",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_006713658.2:c.1624G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713721.1:p.Glu542Lys",
        "hgvsWellDefined": "XP_006713721.1:p.Glu542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "referenceAllele": "G",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_011512894.1:c.1624G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511196.1:p.Glu542Lys",
        "hgvsWellDefined": "XP_011511196.1:p.Glu542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108483",
      "coordinates": [
        {
          "allele": "A",
          "end": 1781,
          "referenceAllele": "G",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NM_006218.3:c.1624G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006209.2:p.Glu542Lys",
        "hgvsWellDefined": "NP_006209.2:p.Glu542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1806,
          "referenceAllele": "G",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_006713658.4:c.1624G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713721.1:p.Glu542Lys",
        "hgvsWellDefined": "XP_006713721.1:p.Glu542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "referenceAllele": "G",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_011512894.2:c.1624G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511196.1:p.Glu542Lys",
        "hgvsWellDefined": "XP_011511196.1:p.Glu542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542713"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108483",
      "coordinates": [
        {
          "allele": "A",
          "end": 1947,
          "referenceAllele": "G",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NM_006218.4:c.1624G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006209.2:p.Glu542Lys",
        "hgvsWellDefined": "NP_006209.2:p.Glu542Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263967.4:c.1624G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006218.4:c.1624G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263967.3:p.Glu542Lys"
          },
          "RefSeq": {
            "hgvs": "NP_006209.2:p.Glu542Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}