{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359080298",
  "communityStandardTitle": [
    "NM_198253.3(TERT):c.2058C>G (p.Ile686Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=428338[alleleid]",
        "alleleId": 428338,
        "preferredName": "NM_198253.3(TERT):c.2058C>G (p.Ile686Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/436992",
        "RCV": [
          "RCV000500038"
        ],
        "variationId": 436992
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1279478G>C?assembly=hg19",
        "id": "chr5:g.1279478G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1279363G>C?assembly=hg38",
        "id": "chr5:g.1279363G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/745590324",
        "rs": 745590324
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 1279363,
          "referenceAllele": "G",
          "start": 1279362
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1279363G>C",
        "CM000667.2:g.1279363G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 1279478,
          "referenceAllele": "G",
          "start": 1279477
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1279478G>C",
        "CM000667.1:g.1279478G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 1332478,
          "referenceAllele": "G",
          "start": 1332477
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1332478G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20685,
          "referenceAllele": "C",
          "start": 20684
        }
      ],
      "hgvs": [
        "NG_009265.1:g.20685C>G",
        "LRG_343:g.20685C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2137,
          "referenceAllele": "C",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.10:c.2058C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Ile686Met",
        "hgvsWellDefined": "ENSP00000309572.5:p.Ile686Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.2058C>G"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.2058C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Ile686Met"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Ile686Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3387,
          "referenceAllele": "C",
          "start": 3386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000656021.1:c.*1604C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499759.1:n.*1604C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2116,
          "referenceAllele": "C",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.9:c.2058C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Ile686Met",
        "hgvsWellDefined": "ENSP00000309572.5:p.Ile686Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2058,
          "referenceAllele": "C",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000334602.10:c.2058C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334346.6:p.Ile686Met",
        "hgvsWellDefined": "ENSP00000334346.6:p.Ile686Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2058,
          "referenceAllele": "C",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000460137.6:c.2058C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425003.1:p.Ile686Met",
        "hgvsWellDefined": "ENSP00000425003.1:p.Ile686Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 871,
          "referenceAllele": "C",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000484238.6:n.871C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2058,
          "referenceAllele": "C",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000508104.2:c.2058C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426042.2:p.Ile686Met",
        "hgvsWellDefined": "ENSP00000426042.2:p.Ile686Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182431",
      "coordinates": [
        {
          "allele": "G",
          "end": 2116,
          "referenceAllele": "C",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.1:c.2058C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Ile686Met",
        "hgvsWellDefined": "NP_001180305.1:p.Ile686Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645418708",
      "coordinates": [
        {
          "allele": "G",
          "end": 2116,
          "referenceAllele": "C",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.2:c.2058C>G",
        "LRG_343t1:c.2058C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Ile686Met",
        "hgvsWellDefined": "NP_937983.2:p.Ile686Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 965,
          "referenceAllele": "C",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514104.1:c.528C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512406.1:p.Ile176Met",
        "hgvsWellDefined": "XP_011512406.1:p.Ile176Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1006,
          "referenceAllele": "C",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514105.1:c.414C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512407.1:p.Ile138Met",
        "hgvsWellDefined": "XP_011512407.1:p.Ile138Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514106.1:c.414C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512408.1:p.Ile138Met",
        "hgvsWellDefined": "XP_011512408.1:p.Ile138Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2116,
          "referenceAllele": "C",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.1:n.2116C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2116,
          "referenceAllele": "C",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.1:n.2116C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182431",
      "coordinates": [
        {
          "allele": "G",
          "end": 2137,
          "referenceAllele": "C",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.2:c.2058C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Ile686Met",
        "hgvsWellDefined": "NP_001180305.1:p.Ile686Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645418708",
      "coordinates": [
        {
          "allele": "G",
          "end": 2137,
          "referenceAllele": "C",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.3:c.2058C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Ile686Met",
        "hgvsWellDefined": "NP_937983.2:p.Ile686Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.2058C>G"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.2058C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Ile686Met"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Ile686Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2137,
          "referenceAllele": "C",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.2:n.2137C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2137,
          "referenceAllele": "C",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.2:n.2137C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182431",
      "coordinates": [
        {
          "allele": "G",
          "end": 2137,
          "referenceAllele": "C",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.3:c.2058C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Ile686Met",
        "hgvsWellDefined": "NP_001180305.1:p.Ile686Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2137,
          "referenceAllele": "C",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.3:n.2137C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2137,
          "referenceAllele": "C",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.3:n.2137C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731516"
    }
  ],
  "type": "nucleotide"
}