{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355274155",
  "communityStandardTitle": [
    "NM_006218.4(PIK3CA):c.473C>T (p.Ser158Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=27492",
        "active": true,
        "id": "COSM27492"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.178917598C>T?assembly=hg19",
        "id": "chr3:g.178917598C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.179199810C>T?assembly=hg38",
        "id": "chr3:g.179199810C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2108387614",
        "rs": 2108387614
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-179199810-C-T?dataset=gnomad_r4",
        "id": "3-179199810-C-T",
        "variant": "3:179199810 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 179199810,
          "referenceAllele": "C",
          "start": 179199809
        }
      ],
      "hgvs": [
        "NC_000003.12:g.179199810C>T",
        "CM000665.2:g.179199810C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 178917598,
          "referenceAllele": "C",
          "start": 178917597
        }
      ],
      "hgvs": [
        "NC_000003.11:g.178917598C>T",
        "CM000665.1:g.178917598C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 180400292,
          "referenceAllele": "C",
          "start": 180400291
        }
      ],
      "hgvs": [
        "NC_000003.10:g.180400292C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56288,
          "referenceAllele": "C",
          "start": 56287
        }
      ],
      "hgvs": [
        "NG_012113.2:g.56288C>T",
        "LRG_310:g.56288C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002196"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "referenceAllele": "C",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000263967.4:c.473C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263967.3:p.Ser158Leu",
        "hgvsWellDefined": "ENSP00000263967.3:p.Ser158Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742593",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263967.4:c.473C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006218.4:c.473C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263967.3:p.Ser158Leu"
          },
          "RefSeq": {
            "hgvs": "NP_006209.2:p.Ser158Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "C",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000643187.1:c.473C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493507.1:p.Ser158Leu",
        "hgvsWellDefined": "ENSP00000493507.1:p.Ser158Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3280,
          "referenceAllele": "C",
          "start": 3279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000675467.1:n.3280C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000675786.1:c.473C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502323.1:p.Ser158Leu",
        "hgvsWellDefined": "ENSP00000502323.1:p.Ser158Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "ENST00000263967.3:c.473C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263967.3:p.Ser158Leu",
        "hgvsWellDefined": "ENSP00000263967.3:p.Ser158Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069510710",
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NM_006218.2:c.473C>T",
        "LRG_310t1:c.473C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006209.2:p.Ser158Leu",
        "hgvsWellDefined": "NP_006209.2:p.Ser158Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_006713658.2:c.473C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713721.1:p.Ser158Leu",
        "hgvsWellDefined": "XP_006713721.1:p.Ser158Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 736,
          "referenceAllele": "C",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_011512894.1:c.473C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511196.1:p.Ser158Leu",
        "hgvsWellDefined": "XP_011511196.1:p.Ser158Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069510710",
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NM_006218.3:c.473C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006209.2:p.Ser158Leu",
        "hgvsWellDefined": "NP_006209.2:p.Ser158Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_006713658.4:c.473C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713721.1:p.Ser158Leu",
        "hgvsWellDefined": "XP_006713721.1:p.Ser158Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 736,
          "referenceAllele": "C",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "XM_011512894.2:c.473C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511196.1:p.Ser158Leu",
        "hgvsWellDefined": "XP_011511196.1:p.Ser158Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542713"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069510710",
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "referenceAllele": "C",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NM_006218.4:c.473C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006209.2:p.Ser158Leu",
        "hgvsWellDefined": "NP_006209.2:p.Ser158Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263967.4:c.473C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006218.4:c.473C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263967.3:p.Ser158Leu"
          },
          "RefSeq": {
            "hgvs": "NP_006209.2:p.Ser158Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}