{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602379",
  "communityStandardTitle": [
    "NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=27133",
        "active": true,
        "id": "COSM27133"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=295672",
        "active": true,
        "id": "COSM295672"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362775[alleleid]",
        "alleleId": 362775,
        "preferredName": "NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375896",
        "RCV": [
          "RCV000418587",
          "RCV000421622",
          "RCV000423978",
          "RCV000418767",
          "RCV000425714",
          "RCV000422954",
          "RCV000423574",
          "RCV000424431",
          "RCV000427263",
          "RCV000430168",
          "RCV000435310",
          "RCV000435795",
          "RCV000429497",
          "RCV000431401",
          "RCV000435117",
          "RCV000440189",
          "RCV000434277",
          "RCV000434629",
          "RCV000436433",
          "RCV000442112",
          "RCV000442485",
          "RCV000445019",
          "RCV000431018",
          "RCV000441730",
          "RCV000442200",
          "RCV000443141",
          "RCV000626447"
        ],
        "variationId": 375896
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.178936091G>C?assembly=hg19",
        "id": "chr3:g.178936091G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.179218303G>C?assembly=hg38",
        "id": "chr3:g.179218303G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104886003",
        "rs": 104886003
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 179218303,
          "referenceAllele": "G",
          "start": 179218302
        }
      ],
      "hgvs": [
        "NC_000003.12:g.179218303G>C",
        "CM000665.2:g.179218303G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 178936091,
          "referenceAllele": "G",
          "start": 178936090
        }
      ],
      "hgvs": [
        "NC_000003.11:g.178936091G>C",
        "CM000665.1:g.178936091G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 180418785,
          "referenceAllele": "G",
          "start": 180418784
        }
      ],
      "hgvs": [
        "NC_000003.10:g.180418785G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 74781,
          "referenceAllele": "G",
          "start": 74780
        }
      ],
      "hgvs": [
        "NG_012113.2:g.74781G>C",
        "LRG_310:g.74781G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002196"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1956,
          "referenceAllele": "G",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000263967.4:c.1633G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263967.3:p.Glu545Gln",
        "hgvsWellDefined": "ENSP00000263967.3:p.Glu545Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742593",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263967.4:c.1633G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006218.4:c.1633G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263967.3:p.Glu545Gln"
          },
          "RefSeq": {
            "hgvs": "NP_006209.2:p.Glu545Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 95,
          "referenceAllele": "G",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000462255.2:n.95G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1739,
          "referenceAllele": "G",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000643187.1:c.1633G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493507.1:p.Glu545Gln",
        "hgvsWellDefined": "ENSP00000493507.1:p.Glu545Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000674534.1:n.1387G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 136,
          "referenceAllele": "G",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000674622.1:c.136G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502417.1:p.Glu46Gln",
        "hgvsWellDefined": "ENSP00000502417.1:p.Glu46Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4440,
          "referenceAllele": "G",
          "start": 4439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000675467.1:n.4440G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1854,
          "referenceAllele": "G",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000675786.1:c.*200G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502323.1:n.*200G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1790,
          "referenceAllele": "G",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000263967.3:c.1633G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263967.3:p.Glu545Gln",
        "hgvsWellDefined": "ENSP00000263967.3:p.Glu545Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495008",
      "coordinates": [
        {
          "allele": "C",
          "end": 1790,
          "referenceAllele": "G",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NM_006218.2:c.1633G>C",
        "LRG_310t1:c.1633G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006209.2:p.Glu545Gln",
        "hgvsWellDefined": "NP_006209.2:p.Glu545Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1815,
          "referenceAllele": "G",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_006713658.2:c.1633G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713721.1:p.Glu545Gln",
        "hgvsWellDefined": "XP_006713721.1:p.Glu545Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1896,
          "referenceAllele": "G",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_011512894.1:c.1633G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511196.1:p.Glu545Gln",
        "hgvsWellDefined": "XP_011511196.1:p.Glu545Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495008",
      "coordinates": [
        {
          "allele": "C",
          "end": 1790,
          "referenceAllele": "G",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NM_006218.3:c.1633G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006209.2:p.Glu545Gln",
        "hgvsWellDefined": "NP_006209.2:p.Glu545Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525380"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1815,
          "referenceAllele": "G",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_006713658.4:c.1633G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713721.1:p.Glu545Gln",
        "hgvsWellDefined": "XP_006713721.1:p.Glu545Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1896,
          "referenceAllele": "G",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_011512894.2:c.1633G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511196.1:p.Glu545Gln",
        "hgvsWellDefined": "XP_011511196.1:p.Glu545Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542713"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495008",
      "coordinates": [
        {
          "allele": "C",
          "end": 1956,
          "referenceAllele": "G",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NM_006218.4:c.1633G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006209.2:p.Glu545Gln",
        "hgvsWellDefined": "NP_006209.2:p.Glu545Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263967.4:c.1633G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006218.4:c.1633G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263967.3:p.Glu545Gln"
          },
          "RefSeq": {
            "hgvs": "NP_006209.2:p.Glu545Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}