{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386375910",
  "communityStandardTitle": [
    "NM_018171.5(APPL2):c.1439A>C (p.Glu480Ala)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.105583570T>G?assembly=hg19",
        "id": "chr12:g.105583570T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.105189792T>G?assembly=hg38",
        "id": "chr12:g.105189792T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 105189792,
          "referenceAllele": "T",
          "start": 105189791
        }
      ],
      "hgvs": [
        "NC_000012.12:g.105189792T>G",
        "CM000674.2:g.105189792T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 105583570,
          "referenceAllele": "T",
          "start": 105583569
        }
      ],
      "hgvs": [
        "NC_000012.11:g.105583570T>G",
        "CM000674.1:g.105583570T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 104107700,
          "referenceAllele": "T",
          "start": 104107699
        }
      ],
      "hgvs": [
        "NC_000012.10:g.104107700T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 51439,
          "referenceAllele": "A",
          "start": 51438
        }
      ],
      "hgvs": [
        "NG_030419.1:g.51439A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004942"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1601,
          "referenceAllele": "A",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000258530.8:c.1439A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258530.3:p.Glu480Ala",
        "hgvsWellDefined": "ENSP00000258530.3:p.Glu480Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258530.8:c.1439A>C"
          },
          "RefSeq": {
            "hgvs": "NM_018171.5:c.1439A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258530.3:p.Glu480Ala"
          },
          "RefSeq": {
            "hgvs": "NP_060641.2:p.Glu480Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1665,
          "referenceAllele": "A",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000258530.7:c.1439A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258530.3:p.Glu480Ala",
        "hgvsWellDefined": "ENSP00000258530.3:p.Glu480Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "A",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000539978.6:c.1310A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444472.2:p.Glu437Ala",
        "hgvsWellDefined": "ENSP00000444472.2:p.Glu437Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1623,
          "referenceAllele": "A",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000547439.5:c.*724A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449410.1:n.*724A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1449,
          "referenceAllele": "A",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000547809.5:n.1449A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1528,
          "referenceAllele": "A",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000551662.5:c.1457A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446917.1:p.Glu486Ala",
        "hgvsWellDefined": "ENSP00000446917.1:p.Glu486Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000552945.1:n.279A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83,
          "referenceAllele": "A",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "ENST00000553109.1:c.83A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446510.1:p.Glu28Ala",
        "hgvsWellDefined": "ENSP00000446510.1:p.Glu28Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369637"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1675,
          "referenceAllele": "A",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_001251904.1:c.1457A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238833.1:p.Glu486Ala",
        "hgvsWellDefined": "NP_001238833.1:p.Glu486Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018798"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1700,
          "referenceAllele": "A",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_001251905.1:c.1310A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238834.1:p.Glu437Ala",
        "hgvsWellDefined": "NP_001238834.1:p.Glu437Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018799"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1657,
          "referenceAllele": "A",
          "start": 1656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_018171.3:c.1439A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060641.2:p.Glu480Ala",
        "hgvsWellDefined": "NP_060641.2:p.Glu480Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1594,
          "referenceAllele": "A",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_006719472.1:c.1457A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719535.1:p.Glu486Ala",
        "hgvsWellDefined": "XP_006719535.1:p.Glu486Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3127,
          "referenceAllele": "A",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538530.1:c.1418A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536832.1:p.Glu473Ala",
        "hgvsWellDefined": "XP_011536832.1:p.Glu473Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2551,
          "referenceAllele": "A",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538531.1:c.1328A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536833.1:p.Glu443Ala",
        "hgvsWellDefined": "XP_011536833.1:p.Glu443Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4017,
          "referenceAllele": "A",
          "start": 4016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538532.1:c.1328A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536834.1:p.Glu443Ala",
        "hgvsWellDefined": "XP_011536834.1:p.Glu443Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3127,
          "referenceAllele": "A",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538530.3:c.1418A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536832.1:p.Glu473Ala",
        "hgvsWellDefined": "XP_011536832.1:p.Glu473Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2606,
          "referenceAllele": "A",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538531.3:c.1328A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536833.1:p.Glu443Ala",
        "hgvsWellDefined": "XP_011536833.1:p.Glu443Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4116,
          "referenceAllele": "A",
          "start": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_011538532.3:c.1328A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536834.1:p.Glu443Ala",
        "hgvsWellDefined": "XP_011536834.1:p.Glu443Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2062,
          "referenceAllele": "A",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_017019551.2:c.1400A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875040.1:p.Glu467Ala",
        "hgvsWellDefined": "XP_016875040.1:p.Glu467Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2587,
          "referenceAllele": "A",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_017019552.2:c.1310A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875041.1:p.Glu437Ala",
        "hgvsWellDefined": "XP_016875041.1:p.Glu437Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4370,
          "referenceAllele": "A",
          "start": 4369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_017019553.2:c.1310A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875042.1:p.Glu437Ala",
        "hgvsWellDefined": "XP_016875042.1:p.Glu437Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1576,
          "referenceAllele": "A",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XM_017019554.1:c.1439A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875043.1:p.Glu480Ala",
        "hgvsWellDefined": "XP_016875043.1:p.Glu480Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1619,
          "referenceAllele": "A",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XR_001748795.1:n.1619A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1601,
          "referenceAllele": "A",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "XR_001748796.1:n.1601A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1601,
          "referenceAllele": "A",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_018171.4:c.1439A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060641.2:p.Glu480Ala",
        "hgvsWellDefined": "NP_060641.2:p.Glu480Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669543"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1601,
          "referenceAllele": "A",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_018171.5:c.1439A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060641.2:p.Glu480Ala",
        "hgvsWellDefined": "NP_060641.2:p.Glu480Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697976",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258530.8:c.1439A>C"
          },
          "RefSeq": {
            "hgvs": "NM_018171.5:c.1439A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258530.3:p.Glu480Ala"
          },
          "RefSeq": {
            "hgvs": "NP_060641.2:p.Glu480Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1619,
          "referenceAllele": "A",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_001251904.2:c.1457A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238833.1:p.Glu486Ala",
        "hgvsWellDefined": "NP_001238833.1:p.Glu486Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1515,
          "referenceAllele": "A",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018242",
      "geneNCBI_id": 55198,
      "geneSymbol": "APPL2",
      "hgvs": [
        "NM_001251905.2:c.1310A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001238834.1:p.Glu437Ala",
        "hgvsWellDefined": "NP_001238834.1:p.Glu437Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714599"
    }
  ],
  "type": "nucleotide"
}