{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1172375431",
  "communityStandardTitle": [
    "NM_002303.6(LEPR):c.2491+488A>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10889569",
        "rs": 10889569
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 65620511,
          "referenceAllele": "A",
          "start": 65620510
        }
      ],
      "hgvs": [
        "NC_000001.11:g.65620511A>C",
        "CM000663.2:g.65620511A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 66086194,
          "referenceAllele": "A",
          "start": 66086193
        }
      ],
      "hgvs": [
        "NC_000001.10:g.66086194A>C",
        "CM000663.1:g.66086194A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 65858782,
          "referenceAllele": "A",
          "start": 65858781
        }
      ],
      "hgvs": [
        "NC_000001.9:g.65858782A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 204947,
          "referenceAllele": "A",
          "start": 204946
        }
      ],
      "hgvs": [
        "NG_015831.2:g.204947A>C",
        "LRG_283:g.204947A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002863"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2660,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2660,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000349533.11:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330393.7:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748408",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000349533.11:c.2491+488A>C"
          },
          "RefSeq": {
            "hgvs": "NM_002303.6:c.2491+488A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000330393.7:n.2491+488A>C"
          },
          "RefSeq": {
            "hgvs": "NP_002294.2:n.2491+488A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2641,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2641,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000344610.12:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340884.8:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2676,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2676,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000349533.10:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330393.6:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2511,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2511,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000371058.1:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360097.1:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2676,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2676,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000371059.7:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360098.3:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2676,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2676,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000371060.7:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360099.3:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 15679,
          "referenceAllele": "A",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 15680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000406510.7:c.-126-15680A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384025.3:n.-126-15680A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280657"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000471762.1:n.84+488A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2641,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2641,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "ENST00000616738.4:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483390.1:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2676,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2676,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_001003679.3:c.2491+488A>C",
        "LRG_283t1:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003679.1:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2676,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2676,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_001003680.3:c.2491+488A>C",
        "LRG_283t2:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003680.1:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2641,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2641,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_001198687.1:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185616.1:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2641,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2641,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_001198688.1:c.2491+488A>C",
        "LRG_283t4:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185617.1:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2641,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2641,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_001198689.1:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185618.1:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2676,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2676,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_002303.5:c.2491+488A>C",
        "LRG_283t3:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002294.2:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2679,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2679,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_001198687.2:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185616.1:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2660,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2660,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_002303.6:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002294.2:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695507",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000349533.11:c.2491+488A>C"
          },
          "RefSeq": {
            "hgvs": "NM_002303.6:c.2491+488A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000330393.7:n.2491+488A>C"
          },
          "RefSeq": {
            "hgvs": "NP_002294.2:n.2491+488A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2679,
          "endIntronDirection": "+",
          "endIntronOffset": 488,
          "referenceAllele": "A",
          "start": 2679,
          "startIntronDirection": "+",
          "startIntronOffset": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006554",
      "geneNCBI_id": 3953,
      "geneSymbol": "LEPR",
      "hgvs": [
        "NM_001198689.2:c.2491+488A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185618.1:n.2491+488A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713897"
    }
  ],
  "type": "nucleotide"
}