{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1310525930",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.87554G= (p.Trp29185=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518275",
        "rs": 1057518275
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 178557800,
          "referenceAllele": "C",
          "start": 178557799
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178557800C=",
        "CM000664.2:g.178557800C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179422527,
          "referenceAllele": "C",
          "start": 179422526
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179422527C=",
        "CM000664.1:g.179422527C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179130773,
          "referenceAllele": "C",
          "start": 179130772
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179130773C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 278003,
          "referenceAllele": "G",
          "start": 278002
        }
      ],
      "hgvs": [
        "NG_011618.3:g.278003G=",
        "LRG_391:g.278003G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39974,
          "referenceAllele": "C",
          "start": 39973
        }
      ],
      "hgvs": [
        "NG_051363.1:g.39974C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80075,
          "referenceAllele": "G",
          "start": 80074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.79850G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Trp26617="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60935,
          "referenceAllele": "G",
          "start": 60934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.60935G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Trp20312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60734,
          "referenceAllele": "G",
          "start": 60733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.60734G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Trp20245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61160,
          "referenceAllele": "G",
          "start": 61159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.60935G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Trp20312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80073,
          "referenceAllele": "G",
          "start": 80072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.79850G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Trp26617="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60959,
          "referenceAllele": "G",
          "start": 60958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.60734G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Trp20245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60584,
          "referenceAllele": "G",
          "start": 60583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.60359G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Trp20120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87779,
          "referenceAllele": "G",
          "start": 87778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.87554G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Trp29185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.87554G="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.87554G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Trp29185="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Trp29185="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82856,
          "referenceAllele": "G",
          "start": 82855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.82631G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Trp27544="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82856,
          "referenceAllele": "G",
          "start": 82855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.82631G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Trp27544="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82856,
          "referenceAllele": "G",
          "start": 82855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.82631G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Trp27544="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87779,
          "referenceAllele": "G",
          "start": 87778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.87554G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Trp29185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.87554G="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.87554G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Trp29185="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Trp29185="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60584,
          "referenceAllele": "G",
          "start": 60583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.60359G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Trp20120="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067058748",
      "coordinates": [
        {
          "allele": "G",
          "end": 80075,
          "referenceAllele": "G",
          "start": 80074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.79850G="
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Trp26617="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60959,
          "referenceAllele": "G",
          "start": 60958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.60734G="
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Trp20245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61160,
          "referenceAllele": "G",
          "start": 61159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.60935G="
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Trp20312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "endIntronDirection": "-",
          "endIntronOffset": 13499,
          "referenceAllele": "C",
          "start": 446,
          "startIntronDirection": "-",
          "startIntronOffset": 13500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.447-13500C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2043,
          "endIntronDirection": "+",
          "endIntronOffset": 15439,
          "referenceAllele": "C",
          "start": 2043,
          "startIntronDirection": "+",
          "startIntronOffset": 15438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038272.1:n.2043+15439C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87047,
          "referenceAllele": "G",
          "start": 87046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.86651G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Trp28884="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60941,
          "referenceAllele": "G",
          "start": 60940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.60545G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Trp20182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60800,
          "referenceAllele": "G",
          "start": 60799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.60404G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Trp20135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86672,
          "referenceAllele": "G",
          "start": 86671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.86447G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Trp28816="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82070,
          "referenceAllele": "G",
          "start": 82069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.81845G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Trp27282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82067,
          "referenceAllele": "G",
          "start": 82066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.81842G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Trp27281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 79109,
          "referenceAllele": "G",
          "start": 79108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.78884G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Trp26295="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60725,
          "referenceAllele": "G",
          "start": 60724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.60500G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Trp20167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82220,
          "referenceAllele": "G",
          "start": 82219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.81995G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Trp27332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82217,
          "referenceAllele": "G",
          "start": 82216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.81992G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Trp27331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81650,
          "referenceAllele": "G",
          "start": 81649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.81425G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Trp27142="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 78992,
          "referenceAllele": "G",
          "start": 78991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.78767G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Trp26256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 78911,
          "referenceAllele": "G",
          "start": 78910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.78686G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Trp26229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 60674,
          "referenceAllele": "G",
          "start": 60673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.60449G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Trp20150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50329,
          "referenceAllele": "G",
          "start": 50328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.50303G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Trp16768="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}