{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343545",
  "communityStandardTitle": [
    "NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47773[alleleid]",
        "alleleId": 47773,
        "preferredName": "NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39167",
        "RCV": [
          "RCV000032441",
          "RCV000657893"
        ],
        "variationId": 39167
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-40629436-T-C",
        "id": "12-40629436-T-C",
        "variant": "12:40629436 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.40629436T>C?assembly=hg19",
        "id": "chr12:g.40629436T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.40235634T>C?assembly=hg38",
        "id": "chr12:g.40235634T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/33995463",
        "rs": 33995463
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-40629436-T-C?dataset=gnomad_r2_1",
        "id": "12-40629436-T-C",
        "variant": "12:40629436 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-40235634-T-C?dataset=gnomad_r3",
        "id": "12-40235634-T-C",
        "variant": "12:40235634 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-40235634-T-C?dataset=gnomad_r4",
        "id": "12-40235634-T-C",
        "variant": "12:40235634 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 40235634,
          "referenceAllele": "T",
          "start": 40235633
        }
      ],
      "hgvs": [
        "NC_000012.12:g.40235634T>C",
        "CM000674.2:g.40235634T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 40629436,
          "referenceAllele": "T",
          "start": 40629435
        }
      ],
      "hgvs": [
        "NC_000012.11:g.40629436T>C",
        "CM000674.1:g.40629436T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 38915703,
          "referenceAllele": "T",
          "start": 38915702
        }
      ],
      "hgvs": [
        "NC_000012.10:g.38915703T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15624,
          "referenceAllele": "T",
          "start": 15623
        }
      ],
      "hgvs": [
        "NG_011709.1:g.15624T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001918"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000298910.12:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298910.7:p.Leu119Pro",
        "hgvsWellDefined": "ENSP00000298910.7:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298910.12:c.356T>C"
          },
          "RefSeq": {
            "hgvs": "NM_198578.4:c.356T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298910.7:p.Leu119Pro"
          },
          "RefSeq": {
            "hgvs": "NP_940980.4:p.Leu119Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000644108.1:c.326T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000679360.1:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505368.1:p.Leu119Pro",
        "hgvsWellDefined": "ENSP00000505368.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "T",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000680235.1:n.511T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 408,
          "referenceAllele": "T",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000680790.1:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505335.1:p.Leu119Pro",
        "hgvsWellDefined": "ENSP00000505335.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "T",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000298910.11:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298910.7:p.Leu119Pro",
        "hgvsWellDefined": "ENSP00000298910.7:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "referenceAllele": "T",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000343742.6:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341930.2:p.Leu119Pro",
        "hgvsWellDefined": "ENSP00000341930.2:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 235,
          "referenceAllele": "T",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000416796.5:c.143T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398726.1:p.Leu48Pro",
        "hgvsWellDefined": "ENSP00000398726.1:p.Leu48Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343546",
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "referenceAllele": "T",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "NM_198578.3:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_940980.3:p.Leu119Pro",
        "hgvsWellDefined": "NP_940980.3:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "referenceAllele": "T",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_005268629.2:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268686.1:p.Leu119Pro",
        "hgvsWellDefined": "XP_005268686.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "referenceAllele": "T",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537877.1:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536179.1:p.Leu119Pro",
        "hgvsWellDefined": "XP_011536179.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104835"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "referenceAllele": "T",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537878.1:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536180.1:p.Leu119Pro",
        "hgvsWellDefined": "XP_011536180.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "referenceAllele": "T",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537880.1:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536182.1:p.Leu119Pro",
        "hgvsWellDefined": "XP_011536182.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "referenceAllele": "T",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537881.1:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536183.1:p.Leu119Pro",
        "hgvsWellDefined": "XP_011536183.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 472,
          "referenceAllele": "T",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537882.1:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536184.1:p.Leu119Pro",
        "hgvsWellDefined": "XP_011536184.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "T",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_005268629.4:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268686.1:p.Leu119Pro",
        "hgvsWellDefined": "XP_005268686.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "T",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537877.3:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536179.1:p.Leu119Pro",
        "hgvsWellDefined": "XP_011536179.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "T",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537881.3:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536183.1:p.Leu119Pro",
        "hgvsWellDefined": "XP_011536183.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "T",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537882.3:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536184.1:p.Leu119Pro",
        "hgvsWellDefined": "XP_011536184.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "T",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_017018786.2:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874275.1:p.Leu119Pro",
        "hgvsWellDefined": "XP_016874275.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "T",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_017018789.2:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874278.1:p.Leu119Pro",
        "hgvsWellDefined": "XP_016874278.1:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570643"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "T",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XR_001748574.2:n.598T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916060343",
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "NM_198578.4:c.356T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_940980.4:p.Leu119Pro",
        "hgvsWellDefined": "NP_940980.4:p.Leu119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673161",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298910.12:c.356T>C"
          },
          "RefSeq": {
            "hgvs": "NM_198578.4:c.356T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298910.7:p.Leu119Pro"
          },
          "RefSeq": {
            "hgvs": "NP_940980.4:p.Leu119Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}