{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338387270",
  "communityStandardTitle": [
    "NM_004958.4(MTOR):c.6644C>G (p.Ser2215Cys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11184573G>C?assembly=hg19",
        "id": "chr1:g.11184573G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11124516G>C?assembly=hg38",
        "id": "chr1:g.11124516G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777894",
        "rs": 587777894
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 11124516,
          "referenceAllele": "G",
          "start": 11124515
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11124516G>C",
        "CM000663.2:g.11124516G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 11184573,
          "referenceAllele": "G",
          "start": 11184572
        }
      ],
      "hgvs": [
        "NC_000001.10:g.11184573G>C",
        "CM000663.1:g.11184573G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 11107160,
          "referenceAllele": "G",
          "start": 11107159
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11107160G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 143036,
          "referenceAllele": "C",
          "start": 143035
        }
      ],
      "hgvs": [
        "NG_033239.1:g.143036C>G",
        "LRG_734:g.143036C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005485"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6627,
          "referenceAllele": "C",
          "start": 6626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703118.1:c.*2019C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515181.1:n.*2019C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2645,
          "referenceAllele": "C",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703131.1:n.2645C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703139.1:c.1281C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6531,
          "referenceAllele": "C",
          "start": 6530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703140.1:c.6431C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515197.1:p.Ser2144Cys",
        "hgvsWellDefined": "ENSP00000515197.1:p.Ser2144Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7059,
          "referenceAllele": "C",
          "start": 7058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703141.1:c.*2161C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515198.1:n.*2161C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6558,
          "referenceAllele": "C",
          "start": 6557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000703142.1:c.*3474C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515199.1:n.*3474C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6765,
          "referenceAllele": "C",
          "start": 6764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000361445.9:c.6644C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354558.4:p.Ser2215Cys",
        "hgvsWellDefined": "ENSP00000354558.4:p.Ser2215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749472",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361445.9:c.6644C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004958.4:c.6644C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354558.4:p.Ser2215Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004949.1:p.Ser2215Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6721,
          "referenceAllele": "C",
          "start": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000361445.8:c.6644C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354558.4:p.Ser2215Cys",
        "hgvsWellDefined": "ENSP00000354558.4:p.Ser2215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2061,
          "referenceAllele": "C",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "ENST00000376838.5:c.1259C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366034.1:p.Ser420Cys",
        "hgvsWellDefined": "ENSP00000366034.1:p.Ser420Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064205393",
      "coordinates": [
        {
          "allele": "G",
          "end": 6765,
          "referenceAllele": "C",
          "start": 6764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NM_004958.3:c.6644C>G",
        "LRG_734t1:c.6644C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004949.1:p.Ser2215Cys",
        "hgvsWellDefined": "NP_004949.1:p.Ser2215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6798,
          "referenceAllele": "C",
          "start": 6797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_005263438.1:c.6644C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263495.1:p.Ser2215Cys",
        "hgvsWellDefined": "XP_005263495.1:p.Ser2215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063807"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6765,
          "referenceAllele": "C",
          "start": 6764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XR_244786.1:n.6765C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6772,
          "referenceAllele": "C",
          "start": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_005263438.2:c.6644C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263495.1:p.Ser2215Cys",
        "hgvsWellDefined": "XP_005263495.1:p.Ser2215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6228,
          "referenceAllele": "C",
          "start": 6227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_017000900.1:c.5963C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856389.1:p.Ser1988Cys",
        "hgvsWellDefined": "XP_016856389.1:p.Ser1988Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6516,
          "referenceAllele": "C",
          "start": 6515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_017000901.1:c.5396C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856390.1:p.Ser1799Cys",
        "hgvsWellDefined": "XP_016856390.1:p.Ser1799Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7467,
          "referenceAllele": "C",
          "start": 7466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XM_024446187.1:c.6644C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301955.1:p.Ser2215Cys",
        "hgvsWellDefined": "XP_024301955.1:p.Ser2215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6765,
          "referenceAllele": "C",
          "start": 6764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "XR_001737087.1:n.6765C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064205393",
      "coordinates": [
        {
          "allele": "G",
          "end": 6765,
          "referenceAllele": "C",
          "start": 6764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NM_004958.4:c.6644C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004949.1:p.Ser2215Cys",
        "hgvsWellDefined": "NP_004949.1:p.Ser2215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361445.9:c.6644C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004958.4:c.6644C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354558.4:p.Ser2215Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004949.1:p.Ser2215Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6792,
          "referenceAllele": "C",
          "start": 6791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NM_001386500.1:c.6644C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373429.1:p.Ser2215Cys",
        "hgvsWellDefined": "NP_001373429.1:p.Ser2215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6656,
          "referenceAllele": "C",
          "start": 6655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NM_001386501.1:c.5396C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373430.1:p.Ser1799Cys",
        "hgvsWellDefined": "NP_001373430.1:p.Ser1799Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724535"
    }
  ],
  "type": "nucleotide"
}