{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141580807",
  "communityStandardTitle": [
    "NM_174936.4(PCSK9):c.1120G= (p.Asp374=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852912",
        "rs": 137852912
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 55057454,
          "referenceAllele": "G",
          "start": 55057453
        }
      ],
      "hgvs": [
        "NC_000001.11:g.55057454G=",
        "CM000663.2:g.55057454G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 55523127,
          "referenceAllele": "G",
          "start": 55523126
        }
      ],
      "hgvs": [
        "NC_000001.10:g.55523127G=",
        "CM000663.1:g.55523127G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 55295715,
          "referenceAllele": "G",
          "start": 55295714
        }
      ],
      "hgvs": [
        "NC_000001.9:g.55295715G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22908,
          "referenceAllele": "G",
          "start": 22907
        }
      ],
      "hgvs": [
        "NG_009061.1:g.22908G=",
        "LRG_275:g.22908G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001403"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000673913.2:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501161.2:p.Asp374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1502,
          "referenceAllele": "G",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000710286.1:c.1477G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518176.1:p.Asp493="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1022,
          "referenceAllele": "G",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000673903.1:c.745G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501257.1:p.Asp249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1410,
          "referenceAllele": "G",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000302118.5:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303208.5:p.Asp374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247137",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302118.5:c.1120G="
          },
          "RefSeq": {
            "hgvs": "NM_174936.4:c.1120G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303208.5:p.Asp374="
          },
          "RefSeq": {
            "hgvs": "NP_777596.2:p.Asp374="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1844,
          "referenceAllele": "G",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000490692.1:n.1844G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063917022",
      "coordinates": [
        {
          "allele": "G",
          "end": 1482,
          "referenceAllele": "G",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NM_174936.3:c.1120G=",
        "LRG_275t1:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "NP_777596.2:p.Asp374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NR_110451.1:n.779G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "XM_011541193.1:c.241G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539495.1:p.Asp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063917022",
      "coordinates": [
        {
          "allele": "G",
          "end": 1410,
          "referenceAllele": "G",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NM_174936.4:c.1120G="
      ],
      "proteinEffect": {
        "hgvs": "NP_777596.2:p.Asp374="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302118.5:c.1120G="
          },
          "RefSeq": {
            "hgvs": "NM_174936.4:c.1120G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303208.5:p.Asp374="
          },
          "RefSeq": {
            "hgvs": "NP_777596.2:p.Asp374="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NR_110451.2:n.779G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730710"
    }
  ],
  "type": "nucleotide"
}