{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338453542",
  "communityStandardTitle": [
    "NM_000302.4(PLOD1):c.2075C>G (p.Pro692Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.12034756C>G?assembly=hg19",
        "id": "chr1:g.12034756C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11974699C>G?assembly=hg38",
        "id": "chr1:g.11974699C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/557317492",
        "rs": 557317492
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11974699-C-G?dataset=gnomad_r4",
        "id": "1-11974699-C-G",
        "variant": "1:11974699 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11974699,
          "referenceAllele": "C",
          "start": 11974698
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11974699C>G",
        "CM000663.2:g.11974699C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 12034756,
          "referenceAllele": "C",
          "start": 12034755
        }
      ],
      "hgvs": [
        "NC_000001.10:g.12034756C>G",
        "CM000663.1:g.12034756C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11957343,
          "referenceAllele": "C",
          "start": 11957342
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11957343C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 45011,
          "referenceAllele": "C",
          "start": 45010
        }
      ],
      "hgvs": [
        "NG_008159.1:g.45011C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000905"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000196061.5:c.2075C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000196061.4:p.Pro692Arg",
        "hgvsWellDefined": "ENSP00000196061.4:p.Pro692Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740120",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000196061.5:c.2075C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000302.4:c.2075C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000196061.4:p.Pro692Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000293.2:p.Pro692Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000196061.4:c.2075C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000196061.4:p.Pro692Arg",
        "hgvsWellDefined": "ENSP00000196061.4:p.Pro692Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1502,
          "referenceAllele": "C",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000481933.1:n.1502C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "endIntronDirection": "-",
          "endIntronOffset": 583,
          "referenceAllele": "C",
          "start": 383,
          "startIntronDirection": "-",
          "startIntronOffset": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000491536.5:n.384-584C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064175108",
      "coordinates": [
        {
          "allele": "G",
          "end": 2188,
          "referenceAllele": "C",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_000302.3:c.2075C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000293.2:p.Pro692Arg",
        "hgvsWellDefined": "NP_000293.2:p.Pro692Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2329,
          "referenceAllele": "C",
          "start": 2328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_001316320.1:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303249.1:p.Pro739Arg",
        "hgvsWellDefined": "NP_001303249.1:p.Pro739Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2168,
          "referenceAllele": "C",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "XM_011541594.1:c.2156C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539896.1:p.Pro719Arg",
        "hgvsWellDefined": "XP_011539896.1:p.Pro719Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "XM_024447707.1:c.1409C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303475.1:p.Pro470Arg",
        "hgvsWellDefined": "XP_024303475.1:p.Pro470Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581288"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064175108",
      "coordinates": [
        {
          "allele": "G",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_000302.4:c.2075C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000293.2:p.Pro692Arg",
        "hgvsWellDefined": "NP_000293.2:p.Pro692Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000196061.5:c.2075C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000302.4:c.2075C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000196061.4:p.Pro692Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000293.2:p.Pro692Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2279,
          "referenceAllele": "C",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_001316320.2:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303249.1:p.Pro739Arg",
        "hgvsWellDefined": "NP_001303249.1:p.Pro739Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684160"
    }
  ],
  "type": "nucleotide"
}