{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA370467514",
  "communityStandardTitle": [
    "NM_000237.3(LPL):c.306A>T (p.Arg102Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.19809336A>T?assembly=hg19",
        "id": "chr8:g.19809336A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.19951825A>T?assembly=hg38",
        "id": "chr8:g.19951825A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 19951825,
          "referenceAllele": "A",
          "start": 19951824
        }
      ],
      "hgvs": [
        "NC_000008.11:g.19951825A>T",
        "CM000670.2:g.19951825A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 19809336,
          "referenceAllele": "A",
          "start": 19809335
        }
      ],
      "hgvs": [
        "NC_000008.10:g.19809336A>T",
        "CM000670.1:g.19809336A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 19853616,
          "referenceAllele": "A",
          "start": 19853615
        }
      ],
      "hgvs": [
        "NC_000008.9:g.19853616A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17755,
          "referenceAllele": "A",
          "start": 17754
        }
      ],
      "hgvs": [
        "NG_008855.1:g.17755A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 55109,
          "referenceAllele": "A",
          "start": 55108
        }
      ],
      "hgvs": [
        "NG_008855.2:g.55109A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706089"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "A",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000650287.1:c.306A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497642.1:p.Arg102Ser",
        "hgvsWellDefined": "ENSP00000497642.1:p.Arg102Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650287.1:c.306A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000237.3:c.306A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497642.1:p.Arg102Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000228.1:p.Arg102Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "A",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000311322.8:c.306A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309757.6:p.Arg102Ser",
        "hgvsWellDefined": "ENSP00000309757.6:p.Arg102Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000520959.5:c.78A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428496.1:p.Arg26Ser",
        "hgvsWellDefined": "ENSP00000428496.1:p.Arg26Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "A",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000521994.1:n.563A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "A",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000522701.5:c.306A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428557.1:p.Arg102Ser",
        "hgvsWellDefined": "ENSP00000428557.1:p.Arg102Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "ENST00000524029.5:c.306A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428237.1:p.Arg102Ser",
        "hgvsWellDefined": "ENSP00000428237.1:p.Arg102Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113205",
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "A",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "NM_000237.2:c.306A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000228.1:p.Arg102Ser",
        "hgvsWellDefined": "NP_000228.1:p.Arg102Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113205",
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "A",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006677",
      "geneNCBI_id": 4023,
      "geneSymbol": "LPL",
      "hgvs": [
        "NM_000237.3:c.306A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000228.1:p.Arg102Ser",
        "hgvsWellDefined": "NP_000228.1:p.Arg102Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510771",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650287.1:c.306A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000237.3:c.306A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497642.1:p.Arg102Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000228.1:p.Arg102Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}