{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140886905",
  "communityStandardTitle": [
    "NM_000261.2(MYOC):c.1430T= (p.Ile477=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315331",
        "rs": 74315331
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 171636010,
          "referenceAllele": "A",
          "start": 171636009
        }
      ],
      "hgvs": [
        "NC_000001.11:g.171636010A=",
        "CM000663.2:g.171636010A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 171605150,
          "referenceAllele": "A",
          "start": 171605149
        }
      ],
      "hgvs": [
        "NC_000001.10:g.171605150A=",
        "CM000663.1:g.171605150A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 169871773,
          "referenceAllele": "A",
          "start": 169871772
        }
      ],
      "hgvs": [
        "NC_000001.9:g.169871773A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21624,
          "referenceAllele": "T",
          "start": 21623
        }
      ],
      "hgvs": [
        "NG_008859.1:g.21624T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001254"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "referenceAllele": "T",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "ENST00000037502.11:c.1430T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000037502.5:p.Ile477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000037502.11:c.1430T="
          },
          "RefSeq": {
            "hgvs": "NM_000261.2:c.1430T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000037502.5:p.Ile477="
          },
          "RefSeq": {
            "hgvs": "NP_000252.1:p.Ile477="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 394,
          "endIntronDirection": "-",
          "endIntronOffset": 2619,
          "referenceAllele": "A",
          "start": 394,
          "startIntronDirection": "-",
          "startIntronOffset": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053429",
      "geneNCBI_id": 110806290,
      "geneSymbol": "MYOCOS",
      "hgvs": [
        "ENST00000637303.1:c.235-2620A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490048.1:n.235-2620A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "T",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "ENST00000638471.1:c.*768T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491206.1:n.*768T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1502,
          "referenceAllele": "T",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "ENST00000037502.10:c.1430T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000037502.5:p.Ile477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1451,
          "referenceAllele": "T",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "ENST00000614688.1:c.*394T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478680.1:n.*394T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063900226",
      "coordinates": [
        {
          "allele": "T",
          "end": 1452,
          "referenceAllele": "T",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "NM_000261.1:c.1430T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000252.1:p.Ile477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063900226",
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "referenceAllele": "T",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "NM_000261.2:c.1430T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000252.1:p.Ile477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662374",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000037502.11:c.1430T="
          },
          "RefSeq": {
            "hgvs": "NM_000261.2:c.1430T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000037502.5:p.Ile477="
          },
          "RefSeq": {
            "hgvs": "NP_000252.1:p.Ile477="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}