{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1310549496",
  "communityStandardTitle": [
    "NM_001267550.2(TTN):c.48766C= (p.Pro16256=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750232795",
        "rs": 750232795
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 178614748,
          "referenceAllele": "G",
          "start": 178614747
        }
      ],
      "hgvs": [
        "NC_000002.12:g.178614748G=",
        "CM000664.2:g.178614748G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 179479475,
          "referenceAllele": "G",
          "start": 179479474
        }
      ],
      "hgvs": [
        "NC_000002.11:g.179479475G=",
        "CM000664.1:g.179479475G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 179187720,
          "referenceAllele": "G",
          "start": 179187719
        }
      ],
      "hgvs": [
        "NC_000002.10:g.179187720G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221055,
          "referenceAllele": "C",
          "start": 221054
        }
      ],
      "hgvs": [
        "NG_011618.3:g.221055C=",
        "LRG_391:g.221055C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96922,
          "referenceAllele": "G",
          "start": 96921
        }
      ],
      "hgvs": [
        "NG_051363.1:g.96922G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616968"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 41287,
          "referenceAllele": "C",
          "start": 41286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.11:c.41062C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Pro13688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22147,
          "referenceAllele": "C",
          "start": 22146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.11:c.22147C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Pro7383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21946,
          "referenceAllele": "C",
          "start": 21945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.10:c.21946C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Pro7316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22372,
          "referenceAllele": "C",
          "start": 22371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342175.10:c.22147C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340554.6:p.Pro7383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 41285,
          "referenceAllele": "C",
          "start": 41284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000342992.10:c.41062C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343764.6:p.Pro13688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22171,
          "referenceAllele": "C",
          "start": 22170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000359218.9:c.21946C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352154.5:p.Pro7316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21796,
          "referenceAllele": "C",
          "start": 21795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000460472.6:c.21571C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434586.1:p.Pro7191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48991,
          "referenceAllele": "C",
          "start": 48990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000589042.5:c.48766C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467141.1:p.Pro16256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48766C="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48766C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Pro16256="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Pro16256="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44068,
          "referenceAllele": "C",
          "start": 44067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000591111.5:c.43843C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465570.1:p.Pro14615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44068,
          "referenceAllele": "C",
          "start": 44067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "ENST00000615779.4:c.43843C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483597.1:p.Pro14615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826417285",
      "coordinates": [
        {
          "allele": "C",
          "end": 44068,
          "referenceAllele": "C",
          "start": 44067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001256850.1:c.43843C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243779.1:p.Pro14615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826497654",
      "coordinates": [
        {
          "allele": "C",
          "end": 48991,
          "referenceAllele": "C",
          "start": 48990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_001267550.2:c.48766C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001254479.2:p.Pro16256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000589042.5:c.48766C="
          },
          "RefSeq": {
            "hgvs": "NM_001267550.2:c.48766C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000467141.1:p.Pro16256="
          },
          "RefSeq": {
            "hgvs": "NP_001254479.2:p.Pro16256="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829433416",
      "coordinates": [
        {
          "allele": "C",
          "end": 21796,
          "referenceAllele": "C",
          "start": 21795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_003319.4:c.21571C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003310.4:p.Pro7191="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830195594",
      "coordinates": [
        {
          "allele": "C",
          "end": 41287,
          "referenceAllele": "C",
          "start": 41286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133378.4:c.41062C="
      ],
      "proteinEffect": {
        "hgvs": "NP_596869.4:p.Pro13688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830214657",
      "coordinates": [
        {
          "allele": "C",
          "end": 22171,
          "referenceAllele": "C",
          "start": 22170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133432.3:c.21946C="
      ],
      "proteinEffect": {
        "hgvs": "NP_597676.3:p.Pro7316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830231767",
      "coordinates": [
        {
          "allele": "C",
          "end": 22372,
          "referenceAllele": "C",
          "start": 22371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NM_133437.4:c.22147C="
      ],
      "proteinEffect": {
        "hgvs": "NP_597681.4:p.Pro7383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044124",
      "geneNCBI_id": 100506866,
      "geneSymbol": "TTN-AS1",
      "hgvs": [
        "NR_038271.1:n.1496G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48259,
          "referenceAllele": "C",
          "start": 48258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511729.1:c.47863C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510031.1:p.Pro15955="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22153,
          "referenceAllele": "C",
          "start": 22152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511730.1:c.21757C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510032.1:p.Pro7253="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22012,
          "referenceAllele": "C",
          "start": 22011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_011511731.1:c.21616C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510033.1:p.Pro7206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47884,
          "referenceAllele": "C",
          "start": 47883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004819.1:c.47659C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860308.1:p.Pro15887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43282,
          "referenceAllele": "C",
          "start": 43281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004820.1:c.43057C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860309.1:p.Pro14353="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43279,
          "referenceAllele": "C",
          "start": 43278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004821.1:c.43054C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860310.1:p.Pro14352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 40321,
          "referenceAllele": "C",
          "start": 40320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004822.1:c.40096C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860311.1:p.Pro13366="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21937,
          "referenceAllele": "C",
          "start": 21936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_017004823.1:c.21712C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860312.1:p.Pro7238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43432,
          "referenceAllele": "C",
          "start": 43431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453094.1:c.43207C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308862.1:p.Pro14403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43429,
          "referenceAllele": "C",
          "start": 43428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453095.1:c.43204C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308863.1:p.Pro14402="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 42862,
          "referenceAllele": "C",
          "start": 42861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453096.1:c.42637C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308864.1:p.Pro14213="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 40204,
          "referenceAllele": "C",
          "start": 40203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453097.1:c.39979C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308865.1:p.Pro13327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 40123,
          "referenceAllele": "C",
          "start": 40122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453098.1:c.39898C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308866.1:p.Pro13300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21886,
          "referenceAllele": "C",
          "start": 21885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453099.1:c.21661C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308867.1:p.Pro7221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11541,
          "referenceAllele": "C",
          "start": 11540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "XM_024453100.1:c.11515C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308868.1:p.Pro3839="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586487"
    }
  ],
  "type": "nucleotide"
}