{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16602891",
  "communityStandardTitle": [
    "NM_004958.4(MTOR):c.7498A>T (p.Ile2500Phe)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=423430",
        "active": true,
        "id": "COSM423430"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363335[alleleid]",
        "alleleId": 363335,
        "preferredName": "NM_004958.4(MTOR):c.7498A>T (p.Ile2500Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376456",
        "RCV": [
          "RCV000420686",
          "RCV000427238",
          "RCV000429674",
          "RCV000437898"
        ],
        "variationId": 376456
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11169377T>A?assembly=hg19",
        "id": "chr1:g.11169377T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11109320T>A?assembly=hg38",
        "id": "chr1:g.11109320T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519916",
        "rs": 1057519916
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 11109320,
          "referenceAllele": "T",
          "start": 11109319
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11109320T>A",
        "CM000663.2:g.11109320T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 11169377,
          "referenceAllele": "T",
          "start": 11169376
        }
      ],
      "hgvs": [
        "NC_000001.10:g.11169377T>A",
        "CM000663.1:g.11169377T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 11091964,
          "referenceAllele": "T",
          "start": 11091963
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11091964T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 158232,
          "referenceAllele": "A",
          "start": 158231
        }
      ],
      "hgvs": [
        "NG_033239.1:g.158232A>T",
        "LRG_734:g.158232A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005485"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7481,
          "referenceAllele": "A",
          "start": 7480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703118.1:c.*2873A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515181.1:n.*2873A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3416,
          "referenceAllele": "A",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703131.1:n.3416A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2286,
          "referenceAllele": "A",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703139.1:c.2286A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7385,
          "referenceAllele": "A",
          "start": 7384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703140.1:c.7285A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515197.1:p.Ile2429Phe",
        "hgvsWellDefined": "ENSP00000515197.1:p.Ile2429Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7913,
          "referenceAllele": "A",
          "start": 7912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703141.1:c.*3015A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515198.1:n.*3015A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7412,
          "referenceAllele": "A",
          "start": 7411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703142.1:c.*4328A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515199.1:n.*4328A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7619,
          "referenceAllele": "A",
          "start": 7618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000361445.9:c.7498A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354558.4:p.Ile2500Phe",
        "hgvsWellDefined": "ENSP00000354558.4:p.Ile2500Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749472",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361445.9:c.7498A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004958.4:c.7498A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354558.4:p.Ile2500Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004949.1:p.Ile2500Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7575,
          "referenceAllele": "A",
          "start": 7574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000361445.8:c.7498A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354558.4:p.Ile2500Phe",
        "hgvsWellDefined": "ENSP00000354558.4:p.Ile2500Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2915,
          "referenceAllele": "A",
          "start": 2914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000376838.5:c.2113A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366034.1:p.Ile705Phe",
        "hgvsWellDefined": "ENSP00000366034.1:p.Ile705Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "A",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000455339.1:c.466A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398745.1:p.Ile156Phe",
        "hgvsWellDefined": "ENSP00000398745.1:p.Ile156Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "A",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000473471.5:n.510A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "A",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000490931.1:n.781A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328649"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495224",
      "coordinates": [
        {
          "allele": "T",
          "end": 7619,
          "referenceAllele": "A",
          "start": 7618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NM_004958.3:c.7498A>T",
        "LRG_734t1:c.7498A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004949.1:p.Ile2500Phe",
        "hgvsWellDefined": "NP_004949.1:p.Ile2500Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7652,
          "referenceAllele": "A",
          "start": 7651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_005263438.1:c.7498A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263495.1:p.Ile2500Phe",
        "hgvsWellDefined": "XP_005263495.1:p.Ile2500Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7626,
          "referenceAllele": "A",
          "start": 7625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_005263438.2:c.7498A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263495.1:p.Ile2500Phe",
        "hgvsWellDefined": "XP_005263495.1:p.Ile2500Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7082,
          "referenceAllele": "A",
          "start": 7081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_017000900.1:c.6817A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856389.1:p.Ile2273Phe",
        "hgvsWellDefined": "XP_016856389.1:p.Ile2273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7370,
          "referenceAllele": "A",
          "start": 7369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_017000901.1:c.6250A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856390.1:p.Ile2084Phe",
        "hgvsWellDefined": "XP_016856390.1:p.Ile2084Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8321,
          "referenceAllele": "A",
          "start": 8320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_024446187.1:c.7498A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301955.1:p.Ile2500Phe",
        "hgvsWellDefined": "XP_024301955.1:p.Ile2500Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7536,
          "referenceAllele": "A",
          "start": 7535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XR_001737087.1:n.7536A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645495224",
      "coordinates": [
        {
          "allele": "T",
          "end": 7619,
          "referenceAllele": "A",
          "start": 7618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NM_004958.4:c.7498A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004949.1:p.Ile2500Phe",
        "hgvsWellDefined": "NP_004949.1:p.Ile2500Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361445.9:c.7498A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004958.4:c.7498A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354558.4:p.Ile2500Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004949.1:p.Ile2500Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7646,
          "referenceAllele": "A",
          "start": 7645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NM_001386500.1:c.7498A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373429.1:p.Ile2500Phe",
        "hgvsWellDefined": "NP_001373429.1:p.Ile2500Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7510,
          "referenceAllele": "A",
          "start": 7509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NM_001386501.1:c.6250A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373430.1:p.Ile2084Phe",
        "hgvsWellDefined": "NP_001373430.1:p.Ile2084Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724535"
    }
  ],
  "type": "nucleotide"
}