{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA407414239",
  "communityStandardTitle": [
    "NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1263077",
        "active": true,
        "id": "COSM1263077"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1263078",
        "active": true,
        "id": "COSM1263078"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1015263[alleleid]",
        "alleleId": 1015263,
        "preferredName": "NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1027477",
        "RCV": [
          "RCV001647199"
        ],
        "variationId": 1027477
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.54392964C>T?assembly=hg19",
        "id": "chr19:g.54392964C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.53889710C>T?assembly=hg38",
        "id": "chr19:g.53889710C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2122988567",
        "rs": 2122988567
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 53889710,
          "referenceAllele": "C",
          "start": 53889709
        }
      ],
      "hgvs": [
        "NC_000019.10:g.53889710C>T",
        "CM000681.2:g.53889710C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 54392964,
          "referenceAllele": "C",
          "start": 54392963
        }
      ],
      "hgvs": [
        "NC_000019.9:g.54392964C>T",
        "CM000681.1:g.54392964C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 59084776,
          "referenceAllele": "C",
          "start": 59084775
        }
      ],
      "hgvs": [
        "NC_000019.8:g.59084776C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12498,
          "referenceAllele": "C",
          "start": 12497
        }
      ],
      "hgvs": [
        "NG_009114.1:g.12498C>T",
        "LRG_669:g.12498C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001448"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000682028.1:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507230.1:p.Leu120Phe",
        "hgvsWellDefined": "ENSP00000507230.1:p.Leu120Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000682268.1:n.656C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000682902.1:n.660C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000683513.1:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506809.1:p.Leu120Phe",
        "hgvsWellDefined": "ENSP00000506809.1:p.Leu120Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000263431.4:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263431.3:p.Leu120Phe",
        "hgvsWellDefined": "ENSP00000263431.3:p.Leu120Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742517",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263431.4:c.358C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002739.5:c.358C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263431.3:p.Leu120Phe"
          },
          "RefSeq": {
            "hgvs": "NP_002730.1:p.Leu120Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000263431.3:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263431.3:p.Leu120Phe",
        "hgvsWellDefined": "ENSP00000263431.3:p.Leu120Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000419486.1:c.-27C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387919.2:n.-27C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000474397.5:c.-27C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471271.1:n.-27C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "ENST00000479081.5:c.-27C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471544.1:n.-27C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955248",
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "NM_001316329.1:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303258.1:p.Leu120Phe",
        "hgvsWellDefined": "NP_001303258.1:p.Leu120Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499262386",
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "NM_002739.3:c.358C>T",
        "LRG_669t1:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002730.1:p.Leu120Phe",
        "hgvsWellDefined": "NP_002730.1:p.Leu120Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499262386",
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "NM_002739.4:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002730.1:p.Leu120Phe",
        "hgvsWellDefined": "NP_002730.1:p.Leu120Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028026"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499262386",
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "NM_002739.5:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002730.1:p.Leu120Phe",
        "hgvsWellDefined": "NP_002730.1:p.Leu120Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263431.4:c.358C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002739.5:c.358C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263431.3:p.Leu120Phe"
          },
          "RefSeq": {
            "hgvs": "NP_002730.1:p.Leu120Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826955248",
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009402",
      "geneNCBI_id": 5582,
      "geneSymbol": "PRKCG",
      "hgvs": [
        "NM_001316329.2:c.358C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303258.1:p.Leu120Phe",
        "hgvsWellDefined": "NP_001303258.1:p.Leu120Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684164"
    }
  ],
  "type": "nucleotide"
}