{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1310518010",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.104653C= (p.Arg34885=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518003",
        "rs": 1057518003
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 178531962,
          "referenceAllele": "G",
          "start": 178531961
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178531962G=",
        "CM000664.2:g.178531962G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 179396689,
          "referenceAllele": "G",
          "start": 179396688
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179396689G=",
        "CM000664.1:g.179396689G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 179104935,
          "referenceAllele": "G",
          "start": 179104934
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179104935G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303841,
          "referenceAllele": "C",
          "start": 303840
        }
      ],
      "hgvs": [
        "NG_011618.3:g.303841C=",
        "LRG_391:g.303841C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14136,
          "referenceAllele": "G",
          "start": 14135
        }
      ],
      "hgvs": [
        "NG_051363.1:g.14136G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97174,
          "referenceAllele": "C",
          "start": 97173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.96949C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Arg32317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78034,
          "referenceAllele": "C",
          "start": 78033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.78034C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Arg26012="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77833,
          "referenceAllele": "C",
          "start": 77832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.77833C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Arg25945="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78259,
          "referenceAllele": "C",
          "start": 78258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.78034C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Arg26012="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97172,
          "referenceAllele": "C",
          "start": 97171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.96949C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Arg32317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78058,
          "referenceAllele": "C",
          "start": 78057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.77833C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Arg25945="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77683,
          "referenceAllele": "C",
          "start": 77682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.77458C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Arg25820="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104878,
          "referenceAllele": "C",
          "start": 104877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.104653C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Arg34885="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.104653C="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.104653C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Arg34885="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Arg34885="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99955,
          "referenceAllele": "C",
          "start": 99954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.99730C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Arg33244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99955,
          "referenceAllele": "C",
          "start": 99954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.99730C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Arg33244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99955,
          "referenceAllele": "C",
          "start": 99954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.99730C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Arg33244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104878,
          "referenceAllele": "C",
          "start": 104877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.104653C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Arg34885="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.104653C="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.104653C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Arg34885="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Arg34885="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77683,
          "referenceAllele": "C",
          "start": 77682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.77458C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Arg25820="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066619463",
      "coordinates": [
        {
          "allele": "C",
          "end": 97174,
          "referenceAllele": "C",
          "start": 97173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.96949C="
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Arg32317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78058,
          "referenceAllele": "C",
          "start": 78057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.77833C="
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Arg25945="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78259,
          "referenceAllele": "C",
          "start": 78258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.78034C="
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Arg26012="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 446,
          "endIntronDirection": "+",
          "endIntronOffset": 8326,
          "referenceAllele": "G",
          "start": 446,
          "startIntronDirection": "+",
          "startIntronOffset": 8325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.446+8326G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "endIntronDirection": "-",
          "endIntronOffset": 3769,
          "referenceAllele": "G",
          "start": 219,
          "startIntronDirection": "-",
          "startIntronOffset": 3770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038272.1:n.220-3770G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050330"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104146,
          "referenceAllele": "C",
          "start": 104145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.103750C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Arg34584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 78040,
          "referenceAllele": "C",
          "start": 78039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.77644C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Arg25882="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77899,
          "referenceAllele": "C",
          "start": 77898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.77503C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Arg25835="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103771,
          "referenceAllele": "C",
          "start": 103770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.103546C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Arg34516="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99169,
          "referenceAllele": "C",
          "start": 99168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.98944C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Arg32982="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99166,
          "referenceAllele": "C",
          "start": 99165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.98941C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Arg32981="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 96208,
          "referenceAllele": "C",
          "start": 96207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.95983C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Arg31995="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77824,
          "referenceAllele": "C",
          "start": 77823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.77599C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Arg25867="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99319,
          "referenceAllele": "C",
          "start": 99318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.99094C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Arg33032="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99316,
          "referenceAllele": "C",
          "start": 99315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.99091C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Arg33031="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 98749,
          "referenceAllele": "C",
          "start": 98748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.98524C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Arg32842="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 96091,
          "referenceAllele": "C",
          "start": 96090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.95866C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Arg31956="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 96010,
          "referenceAllele": "C",
          "start": 96009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.95785C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Arg31929="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 77773,
          "referenceAllele": "C",
          "start": 77772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.77548C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Arg25850="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67428,
          "referenceAllele": "C",
          "start": 67427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.67402C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Arg22468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}