{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393793966",
  "communityStandardTitle": [
    "NM_002666.5(PLIN1):c.580C>T (p.Pro194Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.90213229G>A?assembly=hg19",
        "id": "chr15:g.90213229G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89669998G>A?assembly=hg38",
        "id": "chr15:g.89669998G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6496589",
        "rs": 6496589
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89669998-G-A?dataset=gnomad_r4",
        "id": "15-89669998-G-A",
        "variant": "15:89669998 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89669998,
          "referenceAllele": "G",
          "start": 89669997
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89669998G>A",
        "CM000677.2:g.89669998G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 90213229,
          "referenceAllele": "G",
          "start": 90213228
        }
      ],
      "hgvs": [
        "NC_000015.9:g.90213229G>A",
        "CM000677.1:g.90213229G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 88014233,
          "referenceAllele": "G",
          "start": 88014232
        }
      ],
      "hgvs": [
        "NC_000015.8:g.88014233G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14420,
          "referenceAllele": "C",
          "start": 14419
        }
      ],
      "hgvs": [
        "NG_029172.1:g.14420C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004298"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "ENST00000300055.10:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300055.5:p.Pro194Ser",
        "hgvsWellDefined": "ENSP00000300055.5:p.Pro194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300055.10:c.580C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002666.5:c.580C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300055.5:p.Pro194Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002657.3:p.Pro194Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 746,
          "referenceAllele": "C",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "ENST00000300055.9:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300055.5:p.Pro194Ser",
        "hgvsWellDefined": "ENSP00000300055.5:p.Pro194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "C",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "ENST00000430628.2:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402167.2:p.Pro194Ser",
        "hgvsWellDefined": "ENSP00000402167.2:p.Pro194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "NM_001145311.1:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138783.1:p.Pro194Ser",
        "hgvsWellDefined": "NP_001138783.1:p.Pro194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081909045",
      "coordinates": [
        {
          "allele": "T",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "NM_002666.4:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002657.3:p.Pro194Ser",
        "hgvsWellDefined": "NP_002657.3:p.Pro194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "XM_005254934.3:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254991.1:p.Pro194Ser",
        "hgvsWellDefined": "XP_005254991.1:p.Pro194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "XM_005254934.4:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254991.1:p.Pro194Ser",
        "hgvsWellDefined": "XP_005254991.1:p.Pro194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081909045",
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "NM_002666.5:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002657.3:p.Pro194Ser",
        "hgvsWellDefined": "NP_002657.3:p.Pro194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665649",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300055.10:c.580C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002666.5:c.580C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300055.5:p.Pro194Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002657.3:p.Pro194Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009076",
      "geneNCBI_id": 5346,
      "geneSymbol": "PLIN1",
      "hgvs": [
        "NM_001145311.2:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138783.1:p.Pro194Ser",
        "hgvsWellDefined": "NP_001138783.1:p.Pro194Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677859"
    }
  ],
  "type": "nucleotide"
}