{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349608022",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.48777C>A (p.Phe16259Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.179479464G>T?assembly=hg19",
        "id": "chr2:g.179479464G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.178614737G>T?assembly=hg38",
        "id": "chr2:g.178614737G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 178614737,
          "referenceAllele": "G",
          "start": 178614736
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178614737G>T",
        "CM000664.2:g.178614737G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 179479464,
          "referenceAllele": "G",
          "start": 179479463
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179479464G>T",
        "CM000664.1:g.179479464G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 179187709,
          "referenceAllele": "G",
          "start": 179187708
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179187709G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221066,
          "referenceAllele": "C",
          "start": 221065
        }
      ],
      "hgvs": [
        "NG_011618.3:g.221066C>A",
        "LRG_391:g.221066C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96911,
          "referenceAllele": "G",
          "start": 96910
        }
      ],
      "hgvs": [
        "NG_051363.1:g.96911G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41298,
          "referenceAllele": "C",
          "start": 41297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.41073C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Phe13691Leu",
        "hgvsWellDefined": "ENSP00000343764.6:p.Phe13691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22158,
          "referenceAllele": "C",
          "start": 22157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.22158C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Phe7386Leu",
        "hgvsWellDefined": "ENSP00000340554.6:p.Phe7386Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21957,
          "referenceAllele": "C",
          "start": 21956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.21957C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Phe7319Leu",
        "hgvsWellDefined": "ENSP00000352154.5:p.Phe7319Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22383,
          "referenceAllele": "C",
          "start": 22382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.22158C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Phe7386Leu",
        "hgvsWellDefined": "ENSP00000340554.6:p.Phe7386Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41296,
          "referenceAllele": "C",
          "start": 41295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.41073C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Phe13691Leu",
        "hgvsWellDefined": "ENSP00000343764.6:p.Phe13691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22182,
          "referenceAllele": "C",
          "start": 22181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.21957C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Phe7319Leu",
        "hgvsWellDefined": "ENSP00000352154.5:p.Phe7319Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21807,
          "referenceAllele": "C",
          "start": 21806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.21582C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Phe7194Leu",
        "hgvsWellDefined": "ENSP00000434586.1:p.Phe7194Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49002,
          "referenceAllele": "C",
          "start": 49001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.48777C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Phe16259Leu",
        "hgvsWellDefined": "ENSP00000467141.1:p.Phe16259Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48777C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48777C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Phe16259Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Phe16259Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44079,
          "referenceAllele": "C",
          "start": 44078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.43854C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Phe14618Leu",
        "hgvsWellDefined": "ENSP00000465570.1:p.Phe14618Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44079,
          "referenceAllele": "C",
          "start": 44078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.43854C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Phe14618Leu",
        "hgvsWellDefined": "ENSP00000483597.1:p.Phe14618Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44079,
          "referenceAllele": "C",
          "start": 44078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.43854C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Phe14618Leu",
        "hgvsWellDefined": "NP_001243779.1:p.Phe14618Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 49002,
          "referenceAllele": "C",
          "start": 49001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.48777C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Phe16259Leu",
        "hgvsWellDefined": "NP_001254479.2:p.Phe16259Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48777C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48777C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Phe16259Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Phe16259Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21807,
          "referenceAllele": "C",
          "start": 21806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.21582C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Phe7194Leu",
        "hgvsWellDefined": "NP_003310.4:p.Phe7194Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41298,
          "referenceAllele": "C",
          "start": 41297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.41073C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Phe13691Leu",
        "hgvsWellDefined": "NP_596869.4:p.Phe13691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22182,
          "referenceAllele": "C",
          "start": 22181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.21957C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Phe7319Leu",
        "hgvsWellDefined": "NP_597676.3:p.Phe7319Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22383,
          "referenceAllele": "C",
          "start": 22382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.22158C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Phe7386Leu",
        "hgvsWellDefined": "NP_597681.4:p.Phe7386Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1485,
          "referenceAllele": "G",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.1485G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 48270,
          "referenceAllele": "C",
          "start": 48269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.47874C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Phe15958Leu",
        "hgvsWellDefined": "XP_011510031.1:p.Phe15958Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22164,
          "referenceAllele": "C",
          "start": 22163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.21768C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Phe7256Leu",
        "hgvsWellDefined": "XP_011510032.1:p.Phe7256Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22023,
          "referenceAllele": "C",
          "start": 22022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.21627C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Phe7209Leu",
        "hgvsWellDefined": "XP_011510033.1:p.Phe7209Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47895,
          "referenceAllele": "C",
          "start": 47894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.47670C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Phe15890Leu",
        "hgvsWellDefined": "XP_016860308.1:p.Phe15890Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43293,
          "referenceAllele": "C",
          "start": 43292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.43068C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Phe14356Leu",
        "hgvsWellDefined": "XP_016860309.1:p.Phe14356Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43290,
          "referenceAllele": "C",
          "start": 43289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.43065C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Phe14355Leu",
        "hgvsWellDefined": "XP_016860310.1:p.Phe14355Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40332,
          "referenceAllele": "C",
          "start": 40331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.40107C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Phe13369Leu",
        "hgvsWellDefined": "XP_016860311.1:p.Phe13369Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21948,
          "referenceAllele": "C",
          "start": 21947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.21723C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Phe7241Leu",
        "hgvsWellDefined": "XP_016860312.1:p.Phe7241Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43443,
          "referenceAllele": "C",
          "start": 43442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.43218C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Phe14406Leu",
        "hgvsWellDefined": "XP_024308862.1:p.Phe14406Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43440,
          "referenceAllele": "C",
          "start": 43439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.43215C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Phe14405Leu",
        "hgvsWellDefined": "XP_024308863.1:p.Phe14405Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42873,
          "referenceAllele": "C",
          "start": 42872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.42648C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Phe14216Leu",
        "hgvsWellDefined": "XP_024308864.1:p.Phe14216Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40215,
          "referenceAllele": "C",
          "start": 40214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.39990C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Phe13330Leu",
        "hgvsWellDefined": "XP_024308865.1:p.Phe13330Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40134,
          "referenceAllele": "C",
          "start": 40133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.39909C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Phe13303Leu",
        "hgvsWellDefined": "XP_024308866.1:p.Phe13303Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21897,
          "referenceAllele": "C",
          "start": 21896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.21672C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Phe7224Leu",
        "hgvsWellDefined": "XP_024308867.1:p.Phe7224Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11552,
          "referenceAllele": "C",
          "start": 11551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.11526C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Phe3842Leu",
        "hgvsWellDefined": "XP_024308868.1:p.Phe3842Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}