{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602383",
  "communityStandardTitle": [
    "NM_006218.4(PIK3CA):c.1645G>A (p.Asp549Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=17470",
        "active": true,
        "id": "COSM17470"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3205635",
        "active": true,
        "id": "COSM3205635"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362779[alleleid]",
        "alleleId": 362779,
        "preferredName": "NM_006218.4(PIK3CA):c.1645G>A (p.Asp549Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375900",
        "RCV": [
          "RCV000424830",
          "RCV000443118"
        ],
        "variationId": 375900
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.178936103G>A?assembly=hg19",
        "id": "chr3:g.178936103G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.179218315G>A?assembly=hg38",
        "id": "chr3:g.179218315G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519699",
        "rs": 1057519699
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 179218315,
          "referenceAllele": "G",
          "start": 179218314
        }
      ],
      "hgvs": [
        "NC_000003.12:g.179218315G>A",
        "CM000665.2:g.179218315G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 178936103,
          "referenceAllele": "G",
          "start": 178936102
        }
      ],
      "hgvs": [
        "NC_000003.11:g.178936103G>A",
        "CM000665.1:g.178936103G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 180418797,
          "referenceAllele": "G",
          "start": 180418796
        }
      ],
      "hgvs": [
        "NC_000003.10:g.180418797G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74793,
          "referenceAllele": "G",
          "start": 74792
        }
      ],
      "hgvs": [
        "NG_012113.2:g.74793G>A",
        "LRG_310:g.74793G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002196"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1968,
          "referenceAllele": "G",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000263967.4:c.1645G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263967.3:p.Asp549Asn",
        "hgvsWellDefined": "ENSP00000263967.3:p.Asp549Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742593",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263967.4:c.1645G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006218.4:c.1645G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263967.3:p.Asp549Asn"
          },
          "RefSeq": {
            "hgvs": "NP_006209.2:p.Asp549Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107,
          "referenceAllele": "G",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000462255.2:n.107G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1751,
          "referenceAllele": "G",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000643187.1:c.1645G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493507.1:p.Asp549Asn",
        "hgvsWellDefined": "ENSP00000493507.1:p.Asp549Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1399,
          "referenceAllele": "G",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000674534.1:n.1399G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "referenceAllele": "G",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000674622.1:c.148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502417.1:p.Asp50Asn",
        "hgvsWellDefined": "ENSP00000502417.1:p.Asp50Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4452,
          "referenceAllele": "G",
          "start": 4451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000675467.1:n.4452G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1866,
          "referenceAllele": "G",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000675786.1:c.*212G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502323.1:n.*212G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1802,
          "referenceAllele": "G",
          "start": 1801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000263967.3:c.1645G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263967.3:p.Asp549Asn",
        "hgvsWellDefined": "ENSP00000263967.3:p.Asp549Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495019",
      "coordinates": [
        {
          "allele": "A",
          "end": 1802,
          "referenceAllele": "G",
          "start": 1801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NM_006218.2:c.1645G>A",
        "LRG_310t1:c.1645G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006209.2:p.Asp549Asn",
        "hgvsWellDefined": "NP_006209.2:p.Asp549Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_006713658.2:c.1645G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713721.1:p.Asp549Asn",
        "hgvsWellDefined": "XP_006713721.1:p.Asp549Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1908,
          "referenceAllele": "G",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_011512894.1:c.1645G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511196.1:p.Asp549Asn",
        "hgvsWellDefined": "XP_011511196.1:p.Asp549Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495019",
      "coordinates": [
        {
          "allele": "A",
          "end": 1802,
          "referenceAllele": "G",
          "start": 1801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NM_006218.3:c.1645G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006209.2:p.Asp549Asn",
        "hgvsWellDefined": "NP_006209.2:p.Asp549Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_006713658.4:c.1645G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713721.1:p.Asp549Asn",
        "hgvsWellDefined": "XP_006713721.1:p.Asp549Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1908,
          "referenceAllele": "G",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_011512894.2:c.1645G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511196.1:p.Asp549Asn",
        "hgvsWellDefined": "XP_011511196.1:p.Asp549Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542713"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495019",
      "coordinates": [
        {
          "allele": "A",
          "end": 1968,
          "referenceAllele": "G",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NM_006218.4:c.1645G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006209.2:p.Asp549Asn",
        "hgvsWellDefined": "NP_006209.2:p.Asp549Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263967.4:c.1645G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006218.4:c.1645G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263967.3:p.Asp549Asn"
          },
          "RefSeq": {
            "hgvs": "NP_006209.2:p.Asp549Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}