{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252376",
  "communityStandardTitle": [
    "NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17680[alleleid]",
        "alleleId": 17680,
        "preferredName": "NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2641",
        "RCV": [
          "RCV000002760",
          "RCV001248011",
          "RCV004554579",
          "RCV004525840"
        ],
        "variationId": 2641
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6637288A>G?assembly=hg19",
        "id": "chr11:g.6637288A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6616057A>G?assembly=hg38",
        "id": "chr11:g.6616057A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119455953",
        "rs": 119455953
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6637288-A-G?dataset=gnomad_r2_1",
        "id": "11-6637288-A-G",
        "variant": "11:6637288 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6616057-A-G?dataset=gnomad_r3",
        "id": "11-6616057-A-G",
        "variant": "11:6616057 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6616057-A-G?dataset=gnomad_r4",
        "id": "11-6616057-A-G",
        "variant": "11:6616057 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 6616057,
          "referenceAllele": "A",
          "start": 6616056
        }
      ],
      "hgvs": [
        "NC_000011.10:g.6616057A>G",
        "CM000673.2:g.6616057A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 6637288,
          "referenceAllele": "A",
          "start": 6637287
        }
      ],
      "hgvs": [
        "NC_000011.9:g.6637288A>G",
        "CM000673.1:g.6637288A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 6593864,
          "referenceAllele": "A",
          "start": 6593863
        }
      ],
      "hgvs": [
        "NC_000011.8:g.6593864A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8405,
          "referenceAllele": "T",
          "start": 8404
        }
      ],
      "hgvs": [
        "NG_008653.1:g.8405T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001146"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "referenceAllele": "T",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000682424.1:c.979T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507321.1:p.Cys327Arg",
        "hgvsWellDefined": "ENSP00000507321.1:p.Cys327Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1115,
          "referenceAllele": "T",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000299427.12:c.1093T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299427.6:p.Cys365Arg",
        "hgvsWellDefined": "ENSP00000299427.6:p.Cys365Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.1093T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.1093T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Cys365Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Cys365Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 330,
          "referenceAllele": "T",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000436873.7:c.330T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "referenceAllele": "T",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000524924.2:n.213T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758882"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1205,
          "referenceAllele": "T",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000533371.6:c.364T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437066.1:p.Cys122Arg",
        "hgvsWellDefined": "ENSP00000437066.1:p.Cys122Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "referenceAllele": "T",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000642892.1:c.364T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494165.1:p.Cys122Arg",
        "hgvsWellDefined": "ENSP00000494165.1:p.Cys122Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 183,
          "referenceAllele": "T",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643342.1:c.183T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1001,
          "referenceAllele": "T",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643439.1:c.*833T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495849.1:n.*833T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1279,
          "referenceAllele": "T",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643479.1:n.1279T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 602,
          "referenceAllele": "T",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643516.1:c.602T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 933,
          "referenceAllele": "T",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644218.1:c.904T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493574.1:p.Cys302Arg",
        "hgvsWellDefined": "ENSP00000493574.1:p.Cys302Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644683.1:c.*546T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494085.1:n.*546T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 827,
          "referenceAllele": "T",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644810.1:c.814T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495895.1:p.Cys272Arg",
        "hgvsWellDefined": "ENSP00000495895.1:p.Cys272Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644831.1:n.1269T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "referenceAllele": "T",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644933.1:c.364T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496133.1:p.Cys122Arg",
        "hgvsWellDefined": "ENSP00000496133.1:p.Cys122Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 861,
          "referenceAllele": "T",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645285.1:c.175T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495058.1:p.Cys59Arg",
        "hgvsWellDefined": "ENSP00000495058.1:p.Cys59Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1856,
          "referenceAllele": "T",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645331.1:n.1856T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1120,
          "referenceAllele": "T",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645620.1:c.364T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493657.1:p.Cys122Arg",
        "hgvsWellDefined": "ENSP00000493657.1:p.Cys122Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000646691.1:n.426T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1426,
          "referenceAllele": "T",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000646777.1:n.1426T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1573,
          "referenceAllele": "T",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647016.1:n.1573T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "T",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647152.1:c.364T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495893.1:p.Cys122Arg",
        "hgvsWellDefined": "ENSP00000495893.1:p.Cys122Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1098,
          "referenceAllele": "T",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647209.1:c.*962T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495558.1:n.*962T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2113,
          "referenceAllele": "T",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647346.1:n.2113T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1154,
          "referenceAllele": "T",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000299427.10:c.1093T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299427.6:p.Cys365Arg",
        "hgvsWellDefined": "ENSP00000299427.6:p.Cys365Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48,
          "referenceAllele": "T",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000524924.1:n.48T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "T",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000533371.5:c.364T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437066.1:p.Cys122Arg",
        "hgvsWellDefined": "ENSP00000437066.1:p.Cys122Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1123,
          "referenceAllele": "T",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000611494.4:c.1093T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484546.1:p.Cys365Arg",
        "hgvsWellDefined": "ENSP00000484546.1:p.Cys365Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103139",
      "coordinates": [
        {
          "allele": "C",
          "end": 1154,
          "referenceAllele": "T",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.3:c.1093T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Cys365Arg",
        "hgvsWellDefined": "NP_000382.3:p.Cys365Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103139",
      "coordinates": [
        {
          "allele": "C",
          "end": 1115,
          "referenceAllele": "T",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.4:c.1093T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Cys365Arg",
        "hgvsWellDefined": "NP_000382.3:p.Cys365Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.1093T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.1093T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Cys365Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Cys365Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}