{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1769110687",
  "communityStandardTitle": [
    "NM_000237.3(LPL):c.1174C= (p.Leu392=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204078",
        "rs": 118204078
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 19960935,
          "referenceAllele": "C",
          "start": 19960934
        }
      ],
      "hgvs": [
        "NC_000008.11:g.19960935C=",
        "CM000670.2:g.19960935C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 19818446,
          "referenceAllele": "C",
          "start": 19818445
        }
      ],
      "hgvs": [
        "NC_000008.10:g.19818446C=",
        "CM000670.1:g.19818446C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 19862726,
          "referenceAllele": "C",
          "start": 19862725
        }
      ],
      "hgvs": [
        "NC_000008.9:g.19862726C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26865,
          "referenceAllele": "C",
          "start": 26864
        }
      ],
      "hgvs": [
        "NG_008855.1:g.26865C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64219,
          "referenceAllele": "C",
          "start": 64218
        }
      ],
      "hgvs": [
        "NG_008855.2:g.64219C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706089"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1362,
          "referenceAllele": "C",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000650287.1:c.1174C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497642.1:p.Leu392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650287.1:c.1174C="
          },
          "RefSeq": {
            "hgvs": "NM_000237.3:c.1174C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497642.1:p.Leu392="
          },
          "RefSeq": {
            "hgvs": "NP_000228.1:p.Leu392="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 114,
          "referenceAllele": "C",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000650478.1:c.114C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497560.1:p.Ser38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1644,
          "referenceAllele": "C",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000311322.8:c.1174C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309757.6:p.Leu392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074700292",
      "coordinates": [
        {
          "allele": "C",
          "end": 1544,
          "referenceAllele": "C",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "NM_000237.2:c.1174C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000228.1:p.Leu392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074700292",
      "coordinates": [
        {
          "allele": "C",
          "end": 1362,
          "referenceAllele": "C",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "NM_000237.3:c.1174C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000228.1:p.Leu392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510771",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650287.1:c.1174C="
          },
          "RefSeq": {
            "hgvs": "NM_000237.3:c.1174C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497642.1:p.Leu392="
          },
          "RefSeq": {
            "hgvs": "NP_000228.1:p.Leu392="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}