{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141580592",
  "communityStandardTitle": [
    "NM_000302.4(PLOD1):c.2032G= (p.Gly678=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913551",
        "rs": 121913551
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11974656,
          "referenceAllele": "G",
          "start": 11974655
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11974656G=",
        "CM000663.2:g.11974656G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 12034713,
          "referenceAllele": "G",
          "start": 12034712
        }
      ],
      "hgvs": [
        "NC_000001.10:g.12034713G=",
        "CM000663.1:g.12034713G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11957300,
          "referenceAllele": "G",
          "start": 11957299
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11957300G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44968,
          "referenceAllele": "G",
          "start": 44967
        }
      ],
      "hgvs": [
        "NG_008159.1:g.44968G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000905"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2095,
          "referenceAllele": "G",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000196061.5:c.2032G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000196061.4:p.Gly678="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740120",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000196061.5:c.2032G="
          },
          "RefSeq": {
            "hgvs": "NM_000302.4:c.2032G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000196061.4:p.Gly678="
          },
          "RefSeq": {
            "hgvs": "NP_000293.2:p.Gly678="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000196061.4:c.2032G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000196061.4:p.Gly678="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1459,
          "referenceAllele": "G",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000481933.1:n.1459G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "endIntronDirection": "-",
          "endIntronOffset": 626,
          "referenceAllele": "G",
          "start": 383,
          "startIntronDirection": "-",
          "startIntronOffset": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000491536.5:n.384-627G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825113829",
      "coordinates": [
        {
          "allele": "G",
          "end": 2145,
          "referenceAllele": "G",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_000302.3:c.2032G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000293.2:p.Gly678="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826954783",
      "coordinates": [
        {
          "allele": "G",
          "end": 2286,
          "referenceAllele": "G",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_001316320.1:c.2173G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303249.1:p.Gly725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "XM_011541594.1:c.2113G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539896.1:p.Gly705="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2126,
          "referenceAllele": "G",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "XM_024447707.1:c.1366G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303475.1:p.Gly456="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581288"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825113829",
      "coordinates": [
        {
          "allele": "G",
          "end": 2095,
          "referenceAllele": "G",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_000302.4:c.2032G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000293.2:p.Gly678="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000196061.5:c.2032G="
          },
          "RefSeq": {
            "hgvs": "NM_000302.4:c.2032G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000196061.4:p.Gly678="
          },
          "RefSeq": {
            "hgvs": "NP_000293.2:p.Gly678="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826954783",
      "coordinates": [
        {
          "allele": "G",
          "end": 2236,
          "referenceAllele": "G",
          "start": 2235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_001316320.2:c.2173G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303249.1:p.Gly725="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684160"
    }
  ],
  "type": "nucleotide"
}