{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6759577",
  "communityStandardTitle": [
    "NM_018171.5(APPL2):c.1298C>T (p.Ala433Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3752860"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-105583877-G-A",
        "id": "12-105583877-G-A",
        "variant": "12:105583877 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.105583877G>A?assembly=hg19",
        "id": "chr12:g.105583877G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.105190099G>A?assembly=hg38",
        "id": "chr12:g.105190099G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2272495",
        "rs": 2272495
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-105583877-G-A?dataset=gnomad_r2_1",
        "id": "12-105583877-G-A",
        "variant": "12:105583877 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-105190099-G-A?dataset=gnomad_r3",
        "id": "12-105190099-G-A",
        "variant": "12:105190099 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-105190099-G-A?dataset=gnomad_r4",
        "id": "12-105190099-G-A",
        "variant": "12:105190099 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 105190099,
          "referenceAllele": "G",
          "start": 105190098
        }
      ],
      "hgvs": [
        "NC_000012.12:g.105190099G>A",
        "CM000674.2:g.105190099G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 105583877,
          "referenceAllele": "G",
          "start": 105583876
        }
      ],
      "hgvs": [
        "NC_000012.11:g.105583877G>A",
        "CM000674.1:g.105583877G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 104108007,
          "referenceAllele": "G",
          "start": 104108006
        }
      ],
      "hgvs": [
        "NC_000012.10:g.104108007G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51132,
          "referenceAllele": "C",
          "start": 51131
        }
      ],
      "hgvs": [
        "NG_030419.1:g.51132C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004942"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1460,
          "referenceAllele": "C",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000258530.8:c.1298C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258530.3:p.Ala433Val",
        "hgvsWellDefined": "ENSP00000258530.3:p.Ala433Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258530.8:c.1298C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018171.5:c.1298C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258530.3:p.Ala433Val"
          },
          "RefSeq": {
            "hgvs": "NP_060641.2:p.Ala433Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000258530.7:c.1298C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258530.3:p.Ala433Val",
        "hgvsWellDefined": "ENSP00000258530.3:p.Ala433Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1604,
          "referenceAllele": "C",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000539978.6:c.1169C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444472.2:p.Ala390Val",
        "hgvsWellDefined": "ENSP00000444472.2:p.Ala390Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000547439.5:c.*583C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449410.1:n.*583C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000547809.5:n.1308C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000551662.5:c.1316C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446917.1:p.Ala439Val",
        "hgvsWellDefined": "ENSP00000446917.1:p.Ala439Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 73,
          "referenceAllele": "C",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000552945.1:n.73C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1534,
          "referenceAllele": "C",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_001251904.1:c.1316C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238833.1:p.Ala439Val",
        "hgvsWellDefined": "NP_001238833.1:p.Ala439Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1559,
          "referenceAllele": "C",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_001251905.1:c.1169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238834.1:p.Ala390Val",
        "hgvsWellDefined": "NP_001238834.1:p.Ala390Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079270837",
      "coordinates": [
        {
          "allele": "T",
          "end": 1516,
          "referenceAllele": "C",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_018171.3:c.1298C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060641.2:p.Ala433Val",
        "hgvsWellDefined": "NP_060641.2:p.Ala433Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_006719472.1:c.1316C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719535.1:p.Ala439Val",
        "hgvsWellDefined": "XP_006719535.1:p.Ala439Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2986,
          "referenceAllele": "C",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538530.1:c.1277C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536832.1:p.Ala426Val",
        "hgvsWellDefined": "XP_011536832.1:p.Ala426Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2410,
          "referenceAllele": "C",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538531.1:c.1187C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536833.1:p.Ala396Val",
        "hgvsWellDefined": "XP_011536833.1:p.Ala396Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3876,
          "referenceAllele": "C",
          "start": 3875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538532.1:c.1187C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536834.1:p.Ala396Val",
        "hgvsWellDefined": "XP_011536834.1:p.Ala396Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2986,
          "referenceAllele": "C",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538530.3:c.1277C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536832.1:p.Ala426Val",
        "hgvsWellDefined": "XP_011536832.1:p.Ala426Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2465,
          "referenceAllele": "C",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538531.3:c.1187C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536833.1:p.Ala396Val",
        "hgvsWellDefined": "XP_011536833.1:p.Ala396Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3975,
          "referenceAllele": "C",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538532.3:c.1187C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536834.1:p.Ala396Val",
        "hgvsWellDefined": "XP_011536834.1:p.Ala396Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1921,
          "referenceAllele": "C",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_017019551.2:c.1259C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875040.1:p.Ala420Val",
        "hgvsWellDefined": "XP_016875040.1:p.Ala420Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2446,
          "referenceAllele": "C",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_017019552.2:c.1169C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875041.1:p.Ala390Val",
        "hgvsWellDefined": "XP_016875041.1:p.Ala390Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4229,
          "referenceAllele": "C",
          "start": 4228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_017019553.2:c.1169C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875042.1:p.Ala390Val",
        "hgvsWellDefined": "XP_016875042.1:p.Ala390Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "C",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_017019554.1:c.1298C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875043.1:p.Ala433Val",
        "hgvsWellDefined": "XP_016875043.1:p.Ala433Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1478,
          "referenceAllele": "C",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XR_001748795.1:n.1478C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1460,
          "referenceAllele": "C",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XR_001748796.1:n.1460C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079270837",
      "coordinates": [
        {
          "allele": "T",
          "end": 1460,
          "referenceAllele": "C",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_018171.4:c.1298C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060641.2:p.Ala433Val",
        "hgvsWellDefined": "NP_060641.2:p.Ala433Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079270837",
      "coordinates": [
        {
          "allele": "T",
          "end": 1460,
          "referenceAllele": "C",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_018171.5:c.1298C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060641.2:p.Ala433Val",
        "hgvsWellDefined": "NP_060641.2:p.Ala433Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697976",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258530.8:c.1298C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018171.5:c.1298C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258530.3:p.Ala433Val"
          },
          "RefSeq": {
            "hgvs": "NP_060641.2:p.Ala433Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1478,
          "referenceAllele": "C",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_001251904.2:c.1316C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238833.1:p.Ala439Val",
        "hgvsWellDefined": "NP_001238833.1:p.Ala439Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "referenceAllele": "C",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_001251905.2:c.1169C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238834.1:p.Ala390Val",
        "hgvsWellDefined": "NP_001238834.1:p.Ala390Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714599"
    }
  ],
  "type": "nucleotide"
}