{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA247530",
  "communityStandardTitle": [
    "NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195886[alleleid]",
        "alleleId": 195886,
        "preferredName": "NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198725",
        "RCV": [
          "RCV000180153",
          "RCV000625040"
        ],
        "variationId": 198725
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-6637605-C-T",
        "id": "11-6637605-C-T",
        "variant": "11:6637605 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6637605C>T?assembly=hg19",
        "id": "chr11:g.6637605C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.6616374C>T?assembly=hg38",
        "id": "chr11:g.6616374C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765380155",
        "rs": 765380155
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6637605-C-T?dataset=gnomad_r2_1",
        "id": "11-6637605-C-T",
        "variant": "11:6637605 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6616374-C-T?dataset=gnomad_r3",
        "id": "11-6616374-C-T",
        "variant": "11:6616374 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-6616374-C-T?dataset=gnomad_r4",
        "id": "11-6616374-C-T",
        "variant": "11:6616374 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 6616374,
          "referenceAllele": "C",
          "start": 6616373
        }
      ],
      "hgvs": [
        "NC_000011.10:g.6616374C>T",
        "CM000673.2:g.6616374C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 6637605,
          "referenceAllele": "C",
          "start": 6637604
        }
      ],
      "hgvs": [
        "NC_000011.9:g.6637605C>T",
        "CM000673.1:g.6637605C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 6594181,
          "referenceAllele": "C",
          "start": 6594180
        }
      ],
      "hgvs": [
        "NC_000011.8:g.6594181C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8088,
          "referenceAllele": "G",
          "start": 8087
        }
      ],
      "hgvs": [
        "NG_008653.1:g.8088G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001146"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000682424.1:c.902G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507321.1:p.Arg301Gln",
        "hgvsWellDefined": "ENSP00000507321.1:p.Arg301Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1038,
          "referenceAllele": "G",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000299427.12:c.1016G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299427.6:p.Arg339Gln",
        "hgvsWellDefined": "ENSP00000299427.6:p.Arg339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.1016G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.1016G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Arg339Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Arg339Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 312,
          "endIntronDirection": "-",
          "endIntronOffset": 299,
          "referenceAllele": "G",
          "start": 312,
          "startIntronDirection": "-",
          "startIntronOffset": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000436873.7:c.313-300G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000533371.6:c.287G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437066.1:p.Arg96Gln",
        "hgvsWellDefined": "ENSP00000437066.1:p.Arg96Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1032,
          "referenceAllele": "G",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000642892.1:c.287G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494165.1:p.Arg96Gln",
        "hgvsWellDefined": "ENSP00000494165.1:p.Arg96Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643342.1:c.106G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643439.1:c.*756G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495849.1:n.*756G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643479.1:n.1202G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "G",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000643516.1:c.525G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 915,
          "endIntronDirection": "+",
          "endIntronOffset": 287,
          "referenceAllele": "G",
          "start": 915,
          "startIntronDirection": "+",
          "startIntronOffset": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644218.1:c.886+287G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493574.1:n.886+287G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644683.1:c.*469G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494085.1:n.*469G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644810.1:c.737G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495895.1:p.Arg246Gln",
        "hgvsWellDefined": "ENSP00000495895.1:p.Arg246Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644831.1:n.1192G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000644933.1:c.287G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496133.1:p.Arg96Gln",
        "hgvsWellDefined": "ENSP00000496133.1:p.Arg96Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 843,
          "endIntronDirection": "+",
          "endIntronOffset": 287,
          "referenceAllele": "G",
          "start": 843,
          "startIntronDirection": "+",
          "startIntronOffset": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645285.1:c.157+287G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495058.1:n.157+287G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1539,
          "referenceAllele": "G",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645331.1:n.1539G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1043,
          "referenceAllele": "G",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000645620.1:c.287G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493657.1:p.Arg96Gln",
        "hgvsWellDefined": "ENSP00000493657.1:p.Arg96Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 109,
          "referenceAllele": "G",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000646691.1:n.109G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000646777.1:n.1349G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769061"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647016.1:n.1496G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647152.1:c.287G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495893.1:p.Arg96Gln",
        "hgvsWellDefined": "ENSP00000495893.1:p.Arg96Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647209.1:c.*885G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495558.1:n.*885G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2036,
          "referenceAllele": "G",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000647346.1:n.2036G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "referenceAllele": "G",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000299427.10:c.1016G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299427.6:p.Arg339Gln",
        "hgvsWellDefined": "ENSP00000299427.6:p.Arg339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000533371.5:c.287G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437066.1:p.Arg96Gln",
        "hgvsWellDefined": "ENSP00000437066.1:p.Arg96Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "ENST00000611494.4:c.1016G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484546.1:p.Arg339Gln",
        "hgvsWellDefined": "ENSP00000484546.1:p.Arg339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103096",
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "referenceAllele": "G",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.3:c.1016G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Arg339Gln",
        "hgvsWellDefined": "NP_000382.3:p.Arg339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103096",
      "coordinates": [
        {
          "allele": "A",
          "end": 1038,
          "referenceAllele": "G",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NM_000391.4:c.1016G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000382.3:p.Arg339Gln",
        "hgvsWellDefined": "NP_000382.3:p.Arg339Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662423",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299427.12:c.1016G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000391.4:c.1016G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299427.6:p.Arg339Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000382.3:p.Arg339Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}