{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1769097494",
  "communityStandardTitle": [
    "NM_000237.3(LPL):c.272G= (p.Trp91=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204070",
        "rs": 118204070
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 19951791,
          "referenceAllele": "G",
          "start": 19951790
        }
      ],
      "hgvs": [
        "NC_000008.11:g.19951791G=",
        "CM000670.2:g.19951791G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 19809302,
          "referenceAllele": "G",
          "start": 19809301
        }
      ],
      "hgvs": [
        "NC_000008.10:g.19809302G=",
        "CM000670.1:g.19809302G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 19853582,
          "referenceAllele": "G",
          "start": 19853581
        }
      ],
      "hgvs": [
        "NC_000008.9:g.19853582G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17721,
          "referenceAllele": "G",
          "start": 17720
        }
      ],
      "hgvs": [
        "NG_008855.1:g.17721G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 55075,
          "referenceAllele": "G",
          "start": 55074
        }
      ],
      "hgvs": [
        "NG_008855.2:g.55075G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706089"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000650287.1:c.272G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497642.1:p.Trp91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650287.1:c.272G="
          },
          "RefSeq": {
            "hgvs": "NM_000237.3:c.272G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497642.1:p.Trp91="
          },
          "RefSeq": {
            "hgvs": "NP_000228.1:p.Trp91="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 742,
          "referenceAllele": "G",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000311322.8:c.272G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309757.6:p.Trp91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000520959.5:c.44G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428496.1:p.Trp15="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000521994.1:n.529G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000522701.5:c.272G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428557.1:p.Trp91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 512,
          "referenceAllele": "G",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000524029.5:c.272G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428237.1:p.Trp91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074700274",
      "coordinates": [
        {
          "allele": "G",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "NM_000237.2:c.272G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000228.1:p.Trp91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074700274",
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "NM_000237.3:c.272G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000228.1:p.Trp91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510771",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650287.1:c.272G="
          },
          "RefSeq": {
            "hgvs": "NM_000237.3:c.272G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497642.1:p.Trp91="
          },
          "RefSeq": {
            "hgvs": "NP_000228.1:p.Trp91="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}