{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2404480010",
  "communityStandardTitle": [
    "NM_001039141.3(TRIOBP):c.1447C= (p.Gln483=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499809",
        "rs": 1060499809
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 37724003,
          "referenceAllele": "C",
          "start": 37724002
        }
      ],
      "hgvs": [
        "NC_000022.11:g.37724003C=",
        "CM000684.2:g.37724003C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 38120010,
          "referenceAllele": "C",
          "start": 38120009
        }
      ],
      "hgvs": [
        "NC_000022.10:g.38120010C=",
        "CM000684.1:g.38120010C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 36449956,
          "referenceAllele": "C",
          "start": 36449955
        }
      ],
      "hgvs": [
        "NC_000022.9:g.36449956C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32016,
          "referenceAllele": "C",
          "start": 32015
        }
      ],
      "hgvs": [
        "NG_012857.1:g.32016C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002588"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1658,
          "referenceAllele": "C",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000644935.1:c.1447C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496394.1:p.Gln483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644935.1:c.1447C="
          },
          "RefSeq": {
            "hgvs": "NM_001039141.3:c.1447C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496394.1:p.Gln483="
          },
          "RefSeq": {
            "hgvs": "NP_001034230.1:p.Gln483="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1381,
          "referenceAllele": "C",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000344404.10:c.*930C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340312.6:n.*930C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000406386.7:c.1447C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384312.3:p.Gln483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2404,
          "referenceAllele": "C",
          "start": 2403
        }
      ],
      "hgvs": [
        "ENST00000455236.4:c.2404C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477208.1:n.2404C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1381,
          "referenceAllele": "C",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000492485.5:n.1381C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088797564",
      "coordinates": [
        {
          "allele": "C",
          "end": 1718,
          "referenceAllele": "C",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "NM_001039141.2:c.1447C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001034230.1:p.Gln483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088797564",
      "coordinates": [
        {
          "allele": "C",
          "end": 1658,
          "referenceAllele": "C",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "NM_001039141.3:c.1447C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001034230.1:p.Gln483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663106",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644935.1:c.1447C="
          },
          "RefSeq": {
            "hgvs": "NM_001039141.3:c.1447C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496394.1:p.Gln483="
          },
          "RefSeq": {
            "hgvs": "NP_001034230.1:p.Gln483="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}