{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA430273495",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.48981C>A (p.Gly16327=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179479260G>T?assembly=hg19",
        "id": "chr2:g.179479260G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 178614533,
          "referenceAllele": "G",
          "start": 178614532
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178614533G>T",
        "CM000664.2:g.178614533G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 179479260,
          "referenceAllele": "G",
          "start": 179479259
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179479260G>T",
        "CM000664.1:g.179479260G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 179187505,
          "referenceAllele": "G",
          "start": 179187504
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179187505G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221270,
          "referenceAllele": "C",
          "start": 221269
        }
      ],
      "hgvs": [
        "NG_011618.3:g.221270C>A",
        "LRG_391:g.221270C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96707,
          "referenceAllele": "G",
          "start": 96706
        }
      ],
      "hgvs": [
        "NG_051363.1:g.96707G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41502,
          "referenceAllele": "C",
          "start": 41501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.41277C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Gly13759="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22362,
          "referenceAllele": "C",
          "start": 22361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.22362C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Gly7454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22161,
          "referenceAllele": "C",
          "start": 22160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.22161C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Gly7387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22587,
          "referenceAllele": "C",
          "start": 22586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.22362C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Gly7454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41500,
          "referenceAllele": "C",
          "start": 41499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.41277C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Gly13759="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22386,
          "referenceAllele": "C",
          "start": 22385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.22161C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Gly7387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22011,
          "referenceAllele": "C",
          "start": 22010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.21786C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Gly7262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49206,
          "referenceAllele": "C",
          "start": 49205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.48981C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Gly16327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48981C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48981C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Gly16327="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Gly16327="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44283,
          "referenceAllele": "C",
          "start": 44282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.44058C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Gly14686="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44283,
          "referenceAllele": "C",
          "start": 44282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.44058C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Gly14686="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44283,
          "referenceAllele": "C",
          "start": 44282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.44058C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Gly14686="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49206,
          "referenceAllele": "C",
          "start": 49205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.48981C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Gly16327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48981C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48981C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Gly16327="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Gly16327="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22011,
          "referenceAllele": "C",
          "start": 22010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.21786C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Gly7262="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067861520",
      "coordinates": [
        {
          "allele": "A",
          "end": 41502,
          "referenceAllele": "C",
          "start": 41501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.41277C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Gly13759="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22386,
          "referenceAllele": "C",
          "start": 22385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.22161C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Gly7387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249500341",
      "coordinates": [
        {
          "allele": "A",
          "end": 22587,
          "referenceAllele": "C",
          "start": 22586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.22362C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Gly7454="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "referenceAllele": "G",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.1281G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 48474,
          "referenceAllele": "C",
          "start": 48473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.48078C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Gly16026="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22368,
          "referenceAllele": "C",
          "start": 22367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.21972C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Gly7324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22227,
          "referenceAllele": "C",
          "start": 22226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.21831C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Gly7277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 48099,
          "referenceAllele": "C",
          "start": 48098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.47874C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Gly15958="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43497,
          "referenceAllele": "C",
          "start": 43496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.43272C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Gly14424="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43494,
          "referenceAllele": "C",
          "start": 43493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.43269C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Gly14423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40536,
          "referenceAllele": "C",
          "start": 40535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.40311C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Gly13437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22152,
          "referenceAllele": "C",
          "start": 22151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.21927C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Gly7309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43647,
          "referenceAllele": "C",
          "start": 43646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.43422C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Gly14474="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43644,
          "referenceAllele": "C",
          "start": 43643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.43419C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Gly14473="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43077,
          "referenceAllele": "C",
          "start": 43076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.42852C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Gly14284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40419,
          "referenceAllele": "C",
          "start": 40418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.40194C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Gly13398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40338,
          "referenceAllele": "C",
          "start": 40337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.40113C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Gly13371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22101,
          "referenceAllele": "C",
          "start": 22100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.21876C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Gly7292="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11756,
          "referenceAllele": "C",
          "start": 11755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.11730C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Gly3910="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}