{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3184623",
  "communityStandardTitle": [
    "NM_198253.3(TERT):c.2221G>T (p.Val741Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=632947[alleleid]",
        "alleleId": 632947,
        "preferredName": "NM_198253.3(TERT):c.2221G>T (p.Val741Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/652891",
        "RCV": [
          "RCV001816876",
          "RCV002537289"
        ],
        "variationId": 652891
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-1278821-C-A",
        "id": "5-1278821-C-A",
        "variant": "5:1278821 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1278821C>A?assembly=hg19",
        "id": "chr5:g.1278821C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.1278706C>A?assembly=hg38",
        "id": "chr5:g.1278706C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150819225",
        "rs": 150819225
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1278821-C-A?dataset=gnomad_r2_1",
        "id": "5-1278821-C-A",
        "variant": "5:1278821 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1278706-C-A?dataset=gnomad_r3",
        "id": "5-1278706-C-A",
        "variant": "5:1278706 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-1278706-C-A?dataset=gnomad_r4",
        "id": "5-1278706-C-A",
        "variant": "5:1278706 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 1278706,
          "referenceAllele": "C",
          "start": 1278705
        }
      ],
      "hgvs": [
        "NC_000005.10:g.1278706C>A",
        "CM000667.2:g.1278706C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 1278821,
          "referenceAllele": "C",
          "start": 1278820
        }
      ],
      "hgvs": [
        "NC_000005.9:g.1278821C>A",
        "CM000667.1:g.1278821C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 1331821,
          "referenceAllele": "C",
          "start": 1331820
        }
      ],
      "hgvs": [
        "NC_000005.8:g.1331821C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21342,
          "referenceAllele": "G",
          "start": 21341
        }
      ],
      "hgvs": [
        "NG_009265.1:g.21342G>T",
        "LRG_343:g.21342G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "G",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.10:c.2221G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Val741Leu",
        "hgvsWellDefined": "ENSP00000309572.5:p.Val741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.2221G>T"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.2221G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Val741Leu"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Val741Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3550,
          "referenceAllele": "G",
          "start": 3549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000656021.1:c.*1767G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499759.1:n.*1767G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2279,
          "referenceAllele": "G",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000310581.9:c.2221G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309572.5:p.Val741Leu",
        "hgvsWellDefined": "ENSP00000309572.5:p.Val741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2221,
          "referenceAllele": "G",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000334602.10:c.2221G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334346.6:p.Val741Leu",
        "hgvsWellDefined": "ENSP00000334346.6:p.Val741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2185,
          "referenceAllele": "G",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000460137.6:c.2185G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425003.1:p.Val729Leu",
        "hgvsWellDefined": "ENSP00000425003.1:p.Val729Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000484238.6:n.1034G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2221,
          "referenceAllele": "G",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "ENST00000508104.2:c.2221G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426042.2:p.Val741Leu",
        "hgvsWellDefined": "ENSP00000426042.2:p.Val741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182536",
      "coordinates": [
        {
          "allele": "T",
          "end": 2279,
          "referenceAllele": "G",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.1:c.2221G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Val741Leu",
        "hgvsWellDefined": "NP_001180305.1:p.Val741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916058043",
      "coordinates": [
        {
          "allele": "T",
          "end": 2279,
          "referenceAllele": "G",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.2:c.2221G>T",
        "LRG_343t1:c.2221G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Val741Leu",
        "hgvsWellDefined": "NP_937983.2:p.Val741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514104.1:c.691G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512406.1:p.Val231Leu",
        "hgvsWellDefined": "XP_011512406.1:p.Val231Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514105.1:c.577G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512407.1:p.Val193Leu",
        "hgvsWellDefined": "XP_011512407.1:p.Val193Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "XM_011514106.1:c.577G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512408.1:p.Val193Leu",
        "hgvsWellDefined": "XP_011512408.1:p.Val193Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2279,
          "referenceAllele": "G",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.1:n.2279G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2243,
          "referenceAllele": "G",
          "start": 2242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.1:n.2243G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182536",
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "G",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.2:c.2221G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Val741Leu",
        "hgvsWellDefined": "NP_001180305.1:p.Val741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916058043",
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "G",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_198253.3:c.2221G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937983.2:p.Val741Leu",
        "hgvsWellDefined": "NP_937983.2:p.Val741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310581.10:c.2221G>T"
          },
          "RefSeq": {
            "hgvs": "NM_198253.3:c.2221G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309572.5:p.Val741Leu"
          },
          "RefSeq": {
            "hgvs": "NP_937983.2:p.Val741Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "G",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.2:n.2300G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2264,
          "referenceAllele": "G",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.2:n.2264G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826182536",
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "G",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NM_001193376.3:c.2221G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180305.1:p.Val741Leu",
        "hgvsWellDefined": "NP_001180305.1:p.Val741Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "G",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149162.3:n.2300G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2264,
          "referenceAllele": "G",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011730",
      "geneNCBI_id": 7015,
      "geneSymbol": "TERT",
      "hgvs": [
        "NR_149163.3:n.2264G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731516"
    }
  ],
  "type": "nucleotide"
}