{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1310580435",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.31763-1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202234172",
        "rs": 202234172
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 178689897,
          "referenceAllele": "C",
          "start": 178689896
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178689897C=",
        "CM000664.2:g.178689897C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179554624,
          "referenceAllele": "C",
          "start": 179554623
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179554624C=",
        "CM000664.1:g.179554624C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 179262869,
          "referenceAllele": "C",
          "start": 179262868
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179262869C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 145906,
          "referenceAllele": "G",
          "start": 145905
        }
      ],
      "hgvs": [
        "NG_011618.3:g.145906G=",
        "LRG_391:g.145906G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28255,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 28255,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.28031-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:n.28031-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13858,
          "endIntronDirection": "-",
          "endIntronOffset": 47579,
          "referenceAllele": "G",
          "start": 13858,
          "startIntronDirection": "-",
          "startIntronOffset": 47580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.13859-47580G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:n.13859-47580G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13657,
          "endIntronDirection": "-",
          "endIntronOffset": 47579,
          "referenceAllele": "G",
          "start": 13657,
          "startIntronDirection": "-",
          "startIntronOffset": 47580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.13658-47580G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:n.13658-47580G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14083,
          "endIntronDirection": "-",
          "endIntronOffset": 47579,
          "referenceAllele": "G",
          "start": 14083,
          "startIntronDirection": "-",
          "startIntronOffset": 47580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.13859-47580G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:n.13859-47580G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28253,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 28253,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.28031-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:n.28031-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13882,
          "endIntronDirection": "-",
          "endIntronOffset": 47579,
          "referenceAllele": "G",
          "start": 13882,
          "startIntronDirection": "-",
          "startIntronOffset": 47580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.13658-47580G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:n.13658-47580G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1396,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1396,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000414766.5:c.1397-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401501.1:n.1397-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13507,
          "endIntronDirection": "-",
          "endIntronOffset": 47579,
          "referenceAllele": "G",
          "start": 13507,
          "startIntronDirection": "-",
          "startIntronOffset": 47580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.13283-47580G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:n.13283-47580G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31987,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31987,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.31763-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:n.31763-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.31763-1G="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.31763-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:n.31763-1G="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:n.31763-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31036,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31036,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.30812-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:n.30812-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31036,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31036,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.30812-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:n.30812-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31036,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31036,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.30812-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:n.30812-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31987,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31987,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.31763-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:n.31763-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.31763-1G="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.31763-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:n.31763-1G="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:n.31763-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13507,
          "endIntronDirection": "-",
          "endIntronOffset": 47579,
          "referenceAllele": "G",
          "start": 13507,
          "startIntronDirection": "-",
          "startIntronOffset": 47580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.13283-47580G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:n.13283-47580G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28255,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 28255,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.28031-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:n.28031-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13882,
          "endIntronDirection": "-",
          "endIntronOffset": 47579,
          "referenceAllele": "G",
          "start": 13882,
          "startIntronDirection": "-",
          "startIntronOffset": 47580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.13658-47580G="
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:n.13658-47580G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14083,
          "endIntronDirection": "-",
          "endIntronOffset": 47579,
          "referenceAllele": "G",
          "start": 14083,
          "startIntronDirection": "-",
          "startIntronOffset": 47580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.13859-47580G="
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:n.13859-47580G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31255,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31255,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.30860-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:n.30860-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13864,
          "endIntronDirection": "-",
          "endIntronOffset": 47579,
          "referenceAllele": "G",
          "start": 13864,
          "startIntronDirection": "-",
          "startIntronOffset": 47580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.13469-47580G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:n.13469-47580G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13723,
          "endIntronDirection": "-",
          "endIntronOffset": 47579,
          "referenceAllele": "G",
          "start": 13723,
          "startIntronDirection": "-",
          "startIntronOffset": 47580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.13328-47580G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:n.13328-47580G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31039,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31039,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.30815-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:n.30815-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28258,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 28258,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.28034-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:n.28034-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28255,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 28255,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.28031-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:n.28031-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31039,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31039,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.30815-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:n.30815-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13648,
          "endIntronDirection": "-",
          "endIntronOffset": 47579,
          "referenceAllele": "G",
          "start": 13648,
          "startIntronDirection": "-",
          "startIntronOffset": 47580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.13424-47580G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:n.13424-47580G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31039,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31039,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.30815-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:n.30815-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31039,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31039,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.30815-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:n.30815-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31039,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31039,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.30815-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:n.30815-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31039,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31039,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.30815-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:n.30815-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31039,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 31039,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.30815-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:n.30815-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13648,
          "endIntronDirection": "-",
          "endIntronOffset": 47579,
          "referenceAllele": "G",
          "start": 13648,
          "startIntronDirection": "-",
          "startIntronOffset": 47580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.13424-47580G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:n.13424-47580G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    }
  ],
  "type": "nucleotide"
}