{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA128724",
  "communityStandardTitle": [
    "NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38854[alleleid]",
        "alleleId": 38854,
        "preferredName": "NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29899",
        "RCV": [
          "RCV000022783",
          "RCV000032370",
          "RCV000677344",
          "RCV002513175",
          "RCV003150932",
          "RCV002509167",
          "RCV002408477",
          "RCV003325404"
        ],
        "variationId": 29899
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1280331C>T?assembly=hg19",
        "id": "chr5:g.1280331C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1280216C>T?assembly=hg38",
        "id": "chr5:g.1280216C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199422294",
        "rs": 199422294
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1280216,
          "referenceAllele": "C",
          "start": 1280215
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1280216C>T",
        "CM000667.2:g.1280216C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1280331,
          "referenceAllele": "C",
          "start": 1280330
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1280331C>T",
        "CM000667.1:g.1280331C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 1333331,
          "referenceAllele": "C",
          "start": 1333330
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1333331C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19832,
          "referenceAllele": "G",
          "start": 19831
        }
      ],
      "hgvs": [
        "NG_009265.1:g.19832G>A",
        "LRG_343:g.19832G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.10:c.1892G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Arg631Gln",
        "hgvsWellDefined": "ENSP00000309572.5:p.Arg631Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.1892G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.1892G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Arg631Gln"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Arg631Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3221,
          "referenceAllele": "G",
          "start": 3220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000656021.1:c.*1438G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499759.1:n.*1438G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1950,
          "referenceAllele": "G",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.9:c.1892G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Arg631Gln",
        "hgvsWellDefined": "ENSP00000309572.5:p.Arg631Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1892,
          "referenceAllele": "G",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000334602.10:c.1892G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334346.6:p.Arg631Gln",
        "hgvsWellDefined": "ENSP00000334346.6:p.Arg631Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1892,
          "referenceAllele": "G",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000460137.6:c.1892G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425003.1:p.Arg631Gln",
        "hgvsWellDefined": "ENSP00000425003.1:p.Arg631Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000484238.6:n.705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1892,
          "referenceAllele": "G",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000508104.2:c.1892G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426042.2:p.Arg631Gln",
        "hgvsWellDefined": "ENSP00000426042.2:p.Arg631Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182316",
      "coordinates": [
        {
          "allele": "A",
          "end": 1950,
          "referenceAllele": "G",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.1:c.1892G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Arg631Gln",
        "hgvsWellDefined": "NP_001180305.1:p.Arg631Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128726",
      "coordinates": [
        {
          "allele": "A",
          "end": 1950,
          "referenceAllele": "G",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.2:c.1892G>A",
        "LRG_343t1:c.1892G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Arg631Gln",
        "hgvsWellDefined": "NP_937983.2:p.Arg631Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514104.1:c.362G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512406.1:p.Arg121Gln",
        "hgvsWellDefined": "XP_011512406.1:p.Arg121Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 840,
          "referenceAllele": "G",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514105.1:c.248G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512407.1:p.Arg83Gln",
        "hgvsWellDefined": "XP_011512407.1:p.Arg83Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514106.1:c.248G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512408.1:p.Arg83Gln",
        "hgvsWellDefined": "XP_011512408.1:p.Arg83Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1950,
          "referenceAllele": "G",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.1:n.1950G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1950,
          "referenceAllele": "G",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.1:n.1950G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182316",
      "coordinates": [
        {
          "allele": "A",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.2:c.1892G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Arg631Gln",
        "hgvsWellDefined": "NP_001180305.1:p.Arg631Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128726",
      "coordinates": [
        {
          "allele": "A",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.3:c.1892G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Arg631Gln",
        "hgvsWellDefined": "NP_937983.2:p.Arg631Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.1892G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.1892G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Arg631Gln"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Arg631Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.2:n.1971G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.2:n.1971G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182316",
      "coordinates": [
        {
          "allele": "A",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.3:c.1892G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Arg631Gln",
        "hgvsWellDefined": "NP_001180305.1:p.Arg631Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.3:n.1971G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1971,
          "referenceAllele": "G",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.3:n.1971G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731516"
    }
  ],
  "type": "nucleotide"
}