{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA479238751",
  "communityStandardTitle": [
    "NM_198578.4(LRRK2):c.6063T>G (p.Ala2021=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.40734210T>G?assembly=hg19",
        "id": "chr12:g.40734210T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 40340408,
          "referenceAllele": "T",
          "start": 40340407
        }
      ],
      "hgvs": [
        "NC_000012.12:g.40340408T>G",
        "CM000674.2:g.40340408T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 40734210,
          "referenceAllele": "T",
          "start": 40734209
        }
      ],
      "hgvs": [
        "NC_000012.11:g.40734210T>G",
        "CM000674.1:g.40734210T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 39020477,
          "referenceAllele": "T",
          "start": 39020476
        }
      ],
      "hgvs": [
        "NC_000012.10:g.39020477T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 120398,
          "referenceAllele": "T",
          "start": 120397
        }
      ],
      "hgvs": [
        "NG_011709.1:g.120398T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001918"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6198,
          "referenceAllele": "T",
          "start": 6197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000298910.12:c.6063T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298910.7:p.Ala2021="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298910.12:c.6063T>G"
          },
          "RefSeq": {
            "hgvs": "NM_198578.4:c.6063T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298910.7:p.Ala2021="
          },
          "RefSeq": {
            "hgvs": "NP_940980.4:p.Ala2021="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6319,
          "referenceAllele": "T",
          "start": 6318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000679360.1:c.*4972T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505368.1:n.*4972T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778993"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1837,
          "referenceAllele": "T",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000679532.1:c.1837T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1508,
          "referenceAllele": "T",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000680018.1:c.1508T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505347.1:n.1508T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1708,
          "referenceAllele": "T",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000680422.1:c.1708T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780039"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1230,
          "referenceAllele": "T",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000680425.1:c.1230T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506459.1:n.1230T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1520,
          "referenceAllele": "T",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000680453.1:c.1520T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5860,
          "referenceAllele": "T",
          "start": 5859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000680790.1:c.5808T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505335.1:p.Ala1936="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2047,
          "referenceAllele": "T",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000681136.1:n.2047T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1746,
          "referenceAllele": "T",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000681696.1:c.1746T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505871.1:p.Ala582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6121,
          "referenceAllele": "T",
          "start": 6120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000298910.11:c.6063T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298910.7:p.Ala2021="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3359,
          "referenceAllele": "T",
          "start": 3358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000430804.5:c.3359T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291324"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2744,
          "referenceAllele": "T",
          "start": 2743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "ENST00000479187.5:n.2744T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6184,
          "referenceAllele": "T",
          "start": 6183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "NM_198578.3:c.6063T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_940980.3:p.Ala2021="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6179,
          "referenceAllele": "T",
          "start": 6178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_005268629.2:c.6063T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268686.1:p.Ala2021="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6179,
          "referenceAllele": "T",
          "start": 6178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537877.1:c.6063T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536179.1:p.Ala2021="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6179,
          "referenceAllele": "T",
          "start": 6178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537878.1:c.6063T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536180.1:p.Ala2021="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5397,
          "referenceAllele": "T",
          "start": 5396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537879.1:c.4860T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536181.1:p.Ala1620="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6305,
          "referenceAllele": "T",
          "start": 6304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_005268629.4:c.6063T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268686.1:p.Ala2021="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6305,
          "referenceAllele": "T",
          "start": 6304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_011537877.3:c.6063T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536179.1:p.Ala2021="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3128,
          "referenceAllele": "T",
          "start": 3127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_017018787.1:c.2979T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874276.1:p.Ala993="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2373,
          "referenceAllele": "T",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_017018788.2:c.2325T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874277.1:p.Ala775="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4952,
          "referenceAllele": "T",
          "start": 4951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "XM_024448833.1:c.4860T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304601.1:p.Ala1620="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080426547",
      "coordinates": [
        {
          "allele": "G",
          "end": 6198,
          "referenceAllele": "T",
          "start": 6197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018618",
      "geneNCBI_id": 120892,
      "geneSymbol": "LRRK2",
      "hgvs": [
        "NM_198578.4:c.6063T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_940980.4:p.Ala2021="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673161",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298910.12:c.6063T>G"
          },
          "RefSeq": {
            "hgvs": "NM_198578.4:c.6063T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298910.7:p.Ala2021="
          },
          "RefSeq": {
            "hgvs": "NP_940980.4:p.Ala2021="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}