{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1310522536",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.89861G= (p.Trp29954=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500457",
        "rs": 1060500457
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 178553039,
          "referenceAllele": "C",
          "start": 178553038
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178553039C=",
        "CM000664.2:g.178553039C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179417766,
          "referenceAllele": "C",
          "start": 179417765
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179417766C=",
        "CM000664.1:g.179417766C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179126012,
          "referenceAllele": "C",
          "start": 179126011
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179126012C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 282764,
          "referenceAllele": "G",
          "start": 282763
        }
      ],
      "hgvs": [
        "NG_011618.3:g.282764G=",
        "LRG_391:g.282764G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35213,
          "referenceAllele": "C",
          "start": 35212
        }
      ],
      "hgvs": [
        "NG_051363.1:g.35213C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82382,
          "referenceAllele": "G",
          "start": 82381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.82157G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Trp27386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63242,
          "referenceAllele": "G",
          "start": 63241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.63242G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Trp21081="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63041,
          "referenceAllele": "G",
          "start": 63040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.63041G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Trp21014="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63467,
          "referenceAllele": "G",
          "start": 63466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.63242G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Trp21081="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82380,
          "referenceAllele": "G",
          "start": 82379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.82157G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Trp27386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63266,
          "referenceAllele": "G",
          "start": 63265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.63041G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Trp21014="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62891,
          "referenceAllele": "G",
          "start": 62890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.62666G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Trp20889="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 90086,
          "referenceAllele": "G",
          "start": 90085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.89861G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Trp29954="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.89861G="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.89861G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Trp29954="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Trp29954="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85163,
          "referenceAllele": "G",
          "start": 85162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.84938G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Trp28313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85163,
          "referenceAllele": "G",
          "start": 85162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.84938G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Trp28313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85163,
          "referenceAllele": "G",
          "start": 85162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.84938G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Trp28313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 90086,
          "referenceAllele": "G",
          "start": 90085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.89861G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Trp29954="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.89861G="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.89861G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Trp29954="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Trp29954="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62891,
          "referenceAllele": "G",
          "start": 62890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.62666G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Trp20889="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067233826",
      "coordinates": [
        {
          "allele": "G",
          "end": 82382,
          "referenceAllele": "G",
          "start": 82381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.82157G="
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Trp27386="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63266,
          "referenceAllele": "G",
          "start": 63265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.63041G="
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Trp21014="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63467,
          "referenceAllele": "G",
          "start": 63466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.63242G="
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Trp21081="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "endIntronDirection": "-",
          "endIntronOffset": 18260,
          "referenceAllele": "C",
          "start": 446,
          "startIntronDirection": "-",
          "startIntronOffset": 18261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.447-18261C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2043,
          "endIntronDirection": "+",
          "endIntronOffset": 10678,
          "referenceAllele": "C",
          "start": 2043,
          "startIntronDirection": "+",
          "startIntronOffset": 10677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038272.1:n.2043+10678C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 89354,
          "referenceAllele": "G",
          "start": 89353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.88958G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Trp29653="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63248,
          "referenceAllele": "G",
          "start": 63247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.62852G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Trp20951="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63107,
          "referenceAllele": "G",
          "start": 63106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.62711G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Trp20904="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88979,
          "referenceAllele": "G",
          "start": 88978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.88754G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Trp29585="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84377,
          "referenceAllele": "G",
          "start": 84376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.84152G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Trp28051="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84374,
          "referenceAllele": "G",
          "start": 84373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.84149G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Trp28050="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81416,
          "referenceAllele": "G",
          "start": 81415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.81191G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Trp27064="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63032,
          "referenceAllele": "G",
          "start": 63031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.62807G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Trp20936="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84527,
          "referenceAllele": "G",
          "start": 84526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.84302G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Trp28101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84524,
          "referenceAllele": "G",
          "start": 84523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.84299G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Trp28100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 83957,
          "referenceAllele": "G",
          "start": 83956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.83732G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Trp27911="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81299,
          "referenceAllele": "G",
          "start": 81298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.81074G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Trp27025="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81218,
          "referenceAllele": "G",
          "start": 81217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.80993G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Trp26998="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62981,
          "referenceAllele": "G",
          "start": 62980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.62756G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Trp20919="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 52636,
          "referenceAllele": "G",
          "start": 52635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.52610G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Trp17537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}