{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140886916",
  "communityStandardTitle": [
    "NM_000261.2(MYOC):c.144G= (p.Gln48=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315339",
        "rs": 74315339
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 171652468,
          "referenceAllele": "C",
          "start": 171652467
        }
      ],
      "hgvs": [
        "NC_000001.11:g.171652468C=",
        "CM000663.2:g.171652468C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 171621608,
          "referenceAllele": "C",
          "start": 171621607
        }
      ],
      "hgvs": [
        "NC_000001.10:g.171621608C=",
        "CM000663.1:g.171621608C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 169888231,
          "referenceAllele": "C",
          "start": 169888230
        }
      ],
      "hgvs": [
        "NC_000001.9:g.169888231C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5166,
          "referenceAllele": "G",
          "start": 5165
        }
      ],
      "hgvs": [
        "NG_008859.1:g.5166G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001254"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 221,
          "referenceAllele": "G",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "ENST00000037502.11:c.144G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000037502.5:p.Gln48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000037502.11:c.144G="
          },
          "RefSeq": {
            "hgvs": "NM_000261.2:c.144G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000037502.5:p.Gln48="
          },
          "RefSeq": {
            "hgvs": "NP_000252.1:p.Gln48="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 148,
          "endIntronDirection": "+",
          "endIntronOffset": 14,
          "referenceAllele": "G",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "ENST00000638471.1:c.130+14G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491206.1:n.130+14G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "ENST00000037502.10:c.144G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000037502.5:p.Gln48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "ENST00000614688.1:c.144G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478680.1:p.Gln48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063900212",
      "coordinates": [
        {
          "allele": "G",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "NM_000261.1:c.144G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000252.1:p.Gln48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063900212",
      "coordinates": [
        {
          "allele": "G",
          "end": 221,
          "referenceAllele": "G",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "NM_000261.2:c.144G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000252.1:p.Gln48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662374",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000037502.11:c.144G="
          },
          "RefSeq": {
            "hgvs": "NM_000261.2:c.144G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000037502.5:p.Gln48="
          },
          "RefSeq": {
            "hgvs": "NP_000252.1:p.Gln48="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}