{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602586",
  "communityStandardTitle": [
    "NM_004958.4(MTOR):c.6667C>A (p.Gln2223Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1332631",
        "active": true,
        "id": "COSM1332631"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363007[alleleid]",
        "alleleId": 363007,
        "preferredName": "NM_004958.4(MTOR):c.6667C>A (p.Gln2223Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376128",
        "RCV": [
          "RCV000441867"
        ],
        "variationId": 376128
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11182179G>T?assembly=hg19",
        "id": "chr1:g.11182179G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11122122G>T?assembly=hg38",
        "id": "chr1:g.11122122G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519778",
        "rs": 1057519778
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 11122122,
          "referenceAllele": "G",
          "start": 11122121
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11122122G>T",
        "CM000663.2:g.11122122G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 11182179,
          "referenceAllele": "G",
          "start": 11182178
        }
      ],
      "hgvs": [
        "NC_000001.10:g.11182179G>T",
        "CM000663.1:g.11182179G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 11104766,
          "referenceAllele": "G",
          "start": 11104765
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11104766G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 145430,
          "referenceAllele": "C",
          "start": 145429
        }
      ],
      "hgvs": [
        "NG_033239.1:g.145430C>A",
        "LRG_734:g.145430C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005485"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6650,
          "referenceAllele": "C",
          "start": 6649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703118.1:c.*2042C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515181.1:n.*2042C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2668,
          "referenceAllele": "C",
          "start": 2667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703131.1:n.2668C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1304,
          "referenceAllele": "C",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703139.1:c.1304C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6554,
          "referenceAllele": "C",
          "start": 6553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703140.1:c.6454C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515197.1:p.Gln2152Lys",
        "hgvsWellDefined": "ENSP00000515197.1:p.Gln2152Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7082,
          "referenceAllele": "C",
          "start": 7081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703141.1:c.*2184C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515198.1:n.*2184C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6581,
          "referenceAllele": "C",
          "start": 6580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703142.1:c.*3497C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515199.1:n.*3497C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6788,
          "referenceAllele": "C",
          "start": 6787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000361445.9:c.6667C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354558.4:p.Gln2223Lys",
        "hgvsWellDefined": "ENSP00000354558.4:p.Gln2223Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749472",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361445.9:c.6667C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004958.4:c.6667C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354558.4:p.Gln2223Lys"
          },
          "RefSeq": {
            "hgvs": "NP_004949.1:p.Gln2223Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6744,
          "referenceAllele": "C",
          "start": 6743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000361445.8:c.6667C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354558.4:p.Gln2223Lys",
        "hgvsWellDefined": "ENSP00000354558.4:p.Gln2223Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "C",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000376838.5:c.1282C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366034.1:p.Gln428Lys",
        "hgvsWellDefined": "ENSP00000366034.1:p.Gln428Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495216",
      "coordinates": [
        {
          "allele": "A",
          "end": 6788,
          "referenceAllele": "C",
          "start": 6787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NM_004958.3:c.6667C>A",
        "LRG_734t1:c.6667C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004949.1:p.Gln2223Lys",
        "hgvsWellDefined": "NP_004949.1:p.Gln2223Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6821,
          "referenceAllele": "C",
          "start": 6820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_005263438.1:c.6667C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263495.1:p.Gln2223Lys",
        "hgvsWellDefined": "XP_005263495.1:p.Gln2223Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6788,
          "referenceAllele": "C",
          "start": 6787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XR_244786.1:n.6788C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6795,
          "referenceAllele": "C",
          "start": 6794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_005263438.2:c.6667C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263495.1:p.Gln2223Lys",
        "hgvsWellDefined": "XP_005263495.1:p.Gln2223Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6251,
          "referenceAllele": "C",
          "start": 6250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_017000900.1:c.5986C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856389.1:p.Gln1996Lys",
        "hgvsWellDefined": "XP_016856389.1:p.Gln1996Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6539,
          "referenceAllele": "C",
          "start": 6538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_017000901.1:c.5419C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856390.1:p.Gln1807Lys",
        "hgvsWellDefined": "XP_016856390.1:p.Gln1807Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7490,
          "referenceAllele": "C",
          "start": 7489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_024446187.1:c.6667C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301955.1:p.Gln2223Lys",
        "hgvsWellDefined": "XP_024301955.1:p.Gln2223Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6788,
          "referenceAllele": "C",
          "start": 6787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XR_001737087.1:n.6788C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495216",
      "coordinates": [
        {
          "allele": "A",
          "end": 6788,
          "referenceAllele": "C",
          "start": 6787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NM_004958.4:c.6667C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004949.1:p.Gln2223Lys",
        "hgvsWellDefined": "NP_004949.1:p.Gln2223Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361445.9:c.6667C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004958.4:c.6667C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354558.4:p.Gln2223Lys"
          },
          "RefSeq": {
            "hgvs": "NP_004949.1:p.Gln2223Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6815,
          "referenceAllele": "C",
          "start": 6814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NM_001386500.1:c.6667C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373429.1:p.Gln2223Lys",
        "hgvsWellDefined": "NP_001373429.1:p.Gln2223Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6679,
          "referenceAllele": "C",
          "start": 6678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NM_001386501.1:c.5419C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373430.1:p.Gln1807Lys",
        "hgvsWellDefined": "NP_001373430.1:p.Gln1807Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724535"
    }
  ],
  "type": "nucleotide"
}