{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3184216",
  "communityStandardTitle": [
    "NM_198253.3(TERT):c.3302C>T (p.Thr1101Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3135458",
        "active": true,
        "id": "COSM3135458"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3135459",
        "active": true,
        "id": "COSM3135459"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=454946[alleleid]",
        "alleleId": 454946,
        "preferredName": "NM_198253.3(TERT):c.3302C>T (p.Thr1101Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471888",
        "RCV": [
          "RCV002256386",
          "RCV002307542",
          "RCV002530163",
          "RCV002324024"
        ],
        "variationId": 471888
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-1253940-G-A",
        "id": "5-1253940-G-A",
        "variant": "5:1253940 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1253940G>A?assembly=hg19",
        "id": "chr5:g.1253940G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1253825G>A?assembly=hg38",
        "id": "chr5:g.1253825G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764602705",
        "rs": 764602705
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1253940-G-A?dataset=gnomad_r2_1",
        "id": "5-1253940-G-A",
        "variant": "5:1253940 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1253825-G-A?dataset=gnomad_r3",
        "id": "5-1253825-G-A",
        "variant": "5:1253825 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1253825-G-A?dataset=gnomad_r4",
        "id": "5-1253825-G-A",
        "variant": "5:1253825 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 1253825,
          "referenceAllele": "G",
          "start": 1253824
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1253825G>A",
        "CM000667.2:g.1253825G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 1253940,
          "referenceAllele": "G",
          "start": 1253939
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1253940G>A",
        "CM000667.1:g.1253940G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 1306940,
          "referenceAllele": "G",
          "start": 1306939
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1306940G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46223,
          "referenceAllele": "C",
          "start": 46222
        }
      ],
      "hgvs": [
        "NG_009265.1:g.46223C>T",
        "LRG_343:g.46223C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3381,
          "referenceAllele": "C",
          "start": 3380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.10:c.3302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Thr1101Met",
        "hgvsWellDefined": "ENSP00000309572.5:p.Thr1101Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.3302C>T"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.3302C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Thr1101Met"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Thr1101Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4631,
          "referenceAllele": "C",
          "start": 4630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000656021.1:c.*2848C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499759.1:n.*2848C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3360,
          "referenceAllele": "C",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.9:c.3302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Thr1101Met",
        "hgvsWellDefined": "ENSP00000309572.5:p.Thr1101Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3113,
          "referenceAllele": "C",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000334602.10:c.3113C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334346.6:p.Thr1038Met",
        "hgvsWellDefined": "ENSP00000334346.6:p.Thr1038Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2895,
          "referenceAllele": "C",
          "start": 2894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000460137.6:c.2895C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425003.1:n.2895C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000484238.6:n.1744C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182959",
      "coordinates": [
        {
          "allele": "T",
          "end": 3171,
          "referenceAllele": "C",
          "start": 3170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.1:c.3113C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Thr1038Met",
        "hgvsWellDefined": "NP_001180305.1:p.Thr1038Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658659496",
      "coordinates": [
        {
          "allele": "T",
          "end": 3360,
          "referenceAllele": "C",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.2:c.3302C>T",
        "LRG_343t1:c.3302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Thr1101Met",
        "hgvsWellDefined": "NP_937983.2:p.Thr1101Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514104.1:c.1772C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512406.1:p.Thr591Met",
        "hgvsWellDefined": "XP_011512406.1:p.Thr591Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2250,
          "referenceAllele": "C",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514105.1:c.1658C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512407.1:p.Thr553Met",
        "hgvsWellDefined": "XP_011512407.1:p.Thr553Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1937,
          "referenceAllele": "C",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514106.1:c.1658C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512408.1:p.Thr553Met",
        "hgvsWellDefined": "XP_011512408.1:p.Thr553Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "endIntronDirection": "-",
          "endIntronOffset": 848,
          "referenceAllele": "G",
          "start": 286,
          "startIntronDirection": "-",
          "startIntronOffset": 849
        }
      ],
      "hgvs": [
        "XR_925683.1:n.287-849G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2989,
          "referenceAllele": "C",
          "start": 2988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.1:n.2989C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2953,
          "referenceAllele": "C",
          "start": 2952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.1:n.2953C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182959",
      "coordinates": [
        {
          "allele": "T",
          "end": 3192,
          "referenceAllele": "C",
          "start": 3191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.2:c.3113C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Thr1038Met",
        "hgvsWellDefined": "NP_001180305.1:p.Thr1038Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658659496",
      "coordinates": [
        {
          "allele": "T",
          "end": 3381,
          "referenceAllele": "C",
          "start": 3380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.3:c.3302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Thr1101Met",
        "hgvsWellDefined": "NP_937983.2:p.Thr1101Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.3302C>T"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.3302C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Thr1101Met"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Thr1101Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3010,
          "referenceAllele": "C",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.2:n.3010C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2974,
          "referenceAllele": "C",
          "start": 2973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.2:n.2974C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182959",
      "coordinates": [
        {
          "allele": "T",
          "end": 3192,
          "referenceAllele": "C",
          "start": 3191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.3:c.3113C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Thr1038Met",
        "hgvsWellDefined": "NP_001180305.1:p.Thr1038Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3010,
          "referenceAllele": "C",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.3:n.3010C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2974,
          "referenceAllele": "C",
          "start": 2973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.3:n.2974C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731516"
    }
  ],
  "type": "nucleotide"
}