{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379472522",
  "communityStandardTitle": [
    "NM_000391.4(TPP1):c.1417G>C (p.Gly473Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6636410C>G?assembly=hg19",
        "id": "chr11:g.6636410C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6615179C>G?assembly=hg38",
        "id": "chr11:g.6615179C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 6615179,
          "referenceAllele": "C",
          "start": 6615178
        }
      ],
      "hgvs": [
        "NC_000011.10:g.6615179C>G",
        "CM000673.2:g.6615179C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 6636410,
          "referenceAllele": "C",
          "start": 6636409
        }
      ],
      "hgvs": [
        "NC_000011.9:g.6636410C>G",
        "CM000673.1:g.6636410C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 6592986,
          "referenceAllele": "C",
          "start": 6592985
        }
      ],
      "hgvs": [
        "NC_000011.8:g.6592986C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9283,
          "referenceAllele": "G",
          "start": 9282
        }
      ],
      "hgvs": [
        "NG_008653.1:g.9283G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001146"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000682424.1:c.1303G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507321.1:p.Gly435Arg",
        "hgvsWellDefined": "ENSP00000507321.1:p.Gly435Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000299427.12:c.1417G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299427.6:p.Gly473Arg",
        "hgvsWellDefined": "ENSP00000299427.6:p.Gly473Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.1417G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.1417G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Gly473Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Gly473Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "referenceAllele": "G",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000524611.2:n.277G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 537,
          "referenceAllele": "G",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000524924.2:n.537G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758882"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000533371.6:c.688G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437066.1:p.Gly230Arg",
        "hgvsWellDefined": "ENSP00000437066.1:p.Gly230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "referenceAllele": "G",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000642892.1:c.688G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494165.1:p.Gly230Arg",
        "hgvsWellDefined": "ENSP00000494165.1:p.Gly230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643342.1:c.490G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1325,
          "referenceAllele": "G",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643439.1:c.*1157G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495849.1:n.*1157G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643479.1:n.1603G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643516.1:c.926G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1257,
          "referenceAllele": "G",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644218.1:c.1228G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493574.1:p.Gly410Arg",
        "hgvsWellDefined": "ENSP00000493574.1:p.Gly410Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644683.1:c.*870G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494085.1:n.*870G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644810.1:c.1138G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495895.1:p.Gly380Arg",
        "hgvsWellDefined": "ENSP00000495895.1:p.Gly380Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1593,
          "referenceAllele": "G",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644831.1:n.1593G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644933.1:c.*283G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496133.1:n.*283G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645285.1:c.*283G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495058.1:n.*283G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2622,
          "referenceAllele": "G",
          "start": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645331.1:n.2622G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645620.1:c.688G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493657.1:p.Gly230Arg",
        "hgvsWellDefined": "ENSP00000493657.1:p.Gly230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000646691.1:n.1304G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "G",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000646777.1:n.1750G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1897,
          "referenceAllele": "G",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647016.1:n.1897G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647152.1:c.688G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495893.1:p.Gly230Arg",
        "hgvsWellDefined": "ENSP00000495893.1:p.Gly230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647209.1:c.*1286G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495558.1:n.*1286G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2437,
          "referenceAllele": "G",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647346.1:n.2437G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1478,
          "referenceAllele": "G",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000299427.10:c.1417G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299427.6:p.Gly473Arg",
        "hgvsWellDefined": "ENSP00000299427.6:p.Gly473Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000524611.1:n.295G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1487,
          "referenceAllele": "G",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000533371.5:c.688G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437066.1:p.Gly230Arg",
        "hgvsWellDefined": "ENSP00000437066.1:p.Gly230Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1447,
          "referenceAllele": "G",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000611494.4:c.1417G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484546.1:p.Gly473Arg",
        "hgvsWellDefined": "ENSP00000484546.1:p.Gly473Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103210",
      "coordinates": [
        {
          "allele": "C",
          "end": 1478,
          "referenceAllele": "G",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.3:c.1417G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Gly473Arg",
        "hgvsWellDefined": "NP_000382.3:p.Gly473Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103210",
      "coordinates": [
        {
          "allele": "C",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.4:c.1417G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Gly473Arg",
        "hgvsWellDefined": "NP_000382.3:p.Gly473Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.1417G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.1417G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Gly473Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Gly473Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}