{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1153865950",
  "communityStandardTitle": [
    "NM_000302.4(PLOD1):c.1562G= (p.Trp521=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518879",
        "rs": 1057518879
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11965571,
          "referenceAllele": "G",
          "start": 11965570
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11965571G=",
        "CM000663.2:g.11965571G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 12025628,
          "referenceAllele": "G",
          "start": 12025627
        }
      ],
      "hgvs": [
        "NC_000001.10:g.12025628G=",
        "CM000663.1:g.12025628G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11948215,
          "referenceAllele": "G",
          "start": 11948214
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11948215G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35883,
          "referenceAllele": "G",
          "start": 35882
        }
      ],
      "hgvs": [
        "NG_008159.1:g.35883G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000905"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1625,
          "referenceAllele": "G",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000196061.5:c.1562G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000196061.4:p.Trp521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740120",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000196061.5:c.1562G="
          },
          "RefSeq": {
            "hgvs": "NM_000302.4:c.1562G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000196061.4:p.Trp521="
          },
          "RefSeq": {
            "hgvs": "NP_000293.2:p.Trp521="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000196061.4:c.1562G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000196061.4:p.Trp521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 176,
          "referenceAllele": "G",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000470133.1:n.176G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000491536.5:n.190G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933562",
      "coordinates": [
        {
          "allele": "G",
          "end": 1675,
          "referenceAllele": "G",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_000302.3:c.1562G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000293.2:p.Trp521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1816,
          "referenceAllele": "G",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_001316320.1:c.1703G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303249.1:p.Trp568="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1655,
          "referenceAllele": "G",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "XM_011541594.1:c.1643G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539896.1:p.Trp548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1656,
          "referenceAllele": "G",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "XM_024447707.1:c.896G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303475.1:p.Trp299="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581288"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933562",
      "coordinates": [
        {
          "allele": "G",
          "end": 1625,
          "referenceAllele": "G",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_000302.4:c.1562G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000293.2:p.Trp521="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000196061.5:c.1562G="
          },
          "RefSeq": {
            "hgvs": "NM_000302.4:c.1562G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000196061.4:p.Trp521="
          },
          "RefSeq": {
            "hgvs": "NP_000293.2:p.Trp521="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "G",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_001316320.2:c.1703G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303249.1:p.Trp568="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684160"
    }
  ],
  "type": "nucleotide"
}