{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2194721745",
  "communityStandardTitle": [
    "NM_002666.5(PLIN1):c.1119C= (p.Val373=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2304796",
        "rs": 2304796
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 89667026,
          "referenceAllele": "G",
          "start": 89667025
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89667026G=",
        "CM000677.2:g.89667026G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 90210257,
          "referenceAllele": "G",
          "start": 90210256
        }
      ],
      "hgvs": [
        "NC_000015.9:g.90210257G=",
        "CM000677.1:g.90210257G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 88011261,
          "referenceAllele": "G",
          "start": 88011260
        }
      ],
      "hgvs": [
        "NC_000015.8:g.88011261G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17392,
          "referenceAllele": "C",
          "start": 17391
        }
      ],
      "hgvs": [
        "NG_029172.1:g.17392C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004298"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "referenceAllele": "C",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "ENST00000300055.10:c.1119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300055.5:p.Val373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300055.10:c.1119C="
          },
          "RefSeq": {
            "hgvs": "NM_002666.5:c.1119C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300055.5:p.Val373="
          },
          "RefSeq": {
            "hgvs": "NP_002657.3:p.Val373="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1285,
          "referenceAllele": "C",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "ENST00000300055.9:c.1119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300055.5:p.Val373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254815"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "ENST00000430628.2:c.1119C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402167.2:p.Val373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 123,
          "endIntronDirection": "+",
          "endIntronOffset": 72,
          "referenceAllele": "C",
          "start": 123,
          "startIntronDirection": "+",
          "startIntronOffset": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "ENST00000560330.1:c.123+72C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453426.1:n.123+72C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825888637",
      "coordinates": [
        {
          "allele": "C",
          "end": 1229,
          "referenceAllele": "C",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "NM_001145311.1:c.1119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138783.1:p.Val373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829390880",
      "coordinates": [
        {
          "allele": "C",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "NM_002666.4:c.1119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002657.3:p.Val373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "C",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "XM_005254934.3:c.1119C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254991.1:p.Val373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1158,
          "referenceAllele": "C",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "XM_005254934.4:c.1119C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005254991.1:p.Val373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829390880",
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "referenceAllele": "C",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "NM_002666.5:c.1119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002657.3:p.Val373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300055.10:c.1119C="
          },
          "RefSeq": {
            "hgvs": "NM_002666.5:c.1119C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300055.5:p.Val373="
          },
          "RefSeq": {
            "hgvs": "NP_002657.3:p.Val373="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825888637",
      "coordinates": [
        {
          "allele": "C",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "NM_001145311.2:c.1119C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138783.1:p.Val373="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677859"
    }
  ],
  "type": "nucleotide"
}