{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409805586",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2128G>C (p.Val710Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264117C>G?assembly=hg19",
        "id": "chr21:g.27264117C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891805C>G?assembly=hg38",
        "id": "chr21:g.25891805C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 25891805,
          "referenceAllele": "C",
          "start": 25891804
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891805C>G",
        "CM000683.2:g.25891805C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 27264117,
          "referenceAllele": "C",
          "start": 27264116
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264117C>G",
        "CM000683.1:g.27264117C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 26185988,
          "referenceAllele": "C",
          "start": 26185987
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26185988C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284016,
          "referenceAllele": "G",
          "start": 284015
        }
      ],
      "hgvs": [
        "NG_007376.1:g.284016G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284324,
          "referenceAllele": "G",
          "start": 284323
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284324G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2095,
          "referenceAllele": "G",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2095G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 525,
          "referenceAllele": "G",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.525G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.794G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2278,
          "referenceAllele": "G",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2128G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Val710Leu",
        "hgvsWellDefined": "ENSP00000284981.4:p.Val710Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2128G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2128G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Val710Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Val710Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2162,
          "referenceAllele": "G",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2128G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Val710Leu",
        "hgvsWellDefined": "ENSP00000284981.4:p.Val710Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2050,
          "referenceAllele": "G",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1903G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Val635Leu",
        "hgvsWellDefined": "ENSP00000345463.5:p.Val635Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1862,
          "referenceAllele": "G",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1735G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Val579Leu",
        "hgvsWellDefined": "ENSP00000346129.3:p.Val579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2238,
          "referenceAllele": "G",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2071G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Val691Leu",
        "hgvsWellDefined": "ENSP00000350578.3:p.Val691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2074G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Val692Leu",
        "hgvsWellDefined": "ENSP00000351796.3:p.Val692Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1990,
          "referenceAllele": "G",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1798G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Val600Leu",
        "hgvsWellDefined": "ENSP00000352760.4:p.Val600Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1994,
          "referenceAllele": "G",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1960G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Val654Leu",
        "hgvsWellDefined": "ENSP00000398879.2:p.Val654Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2322,
          "referenceAllele": "G",
          "start": 2321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2056G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Val686Leu",
        "hgvsWellDefined": "ENSP00000387483.2:p.Val686Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "referenceAllele": "G",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.475G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579933771",
      "coordinates": [
        {
          "allele": "C",
          "end": 2328,
          "referenceAllele": "G",
          "start": 2327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2128G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Val710Leu",
        "hgvsWellDefined": "NP_000475.1:p.Val710Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2252,
          "referenceAllele": "G",
          "start": 2251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2056G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Val686Leu",
        "hgvsWellDefined": "NP_001129488.1:p.Val686Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1935,
          "referenceAllele": "G",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1735G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Val579Leu",
        "hgvsWellDefined": "NP_001129601.1:p.Val579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2160,
          "referenceAllele": "G",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1960G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Val654Leu",
        "hgvsWellDefined": "NP_001129602.1:p.Val654Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1990,
          "referenceAllele": "G",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Val600Leu",
        "hgvsWellDefined": "NP_001129603.1:p.Val600Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2274,
          "referenceAllele": "G",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2074G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Val692Leu",
        "hgvsWellDefined": "NP_001191230.1:p.Val692Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2217,
          "referenceAllele": "G",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.2017G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Val673Leu",
        "hgvsWellDefined": "NP_001191231.1:p.Val673Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2049,
          "referenceAllele": "G",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1849G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Val617Leu",
        "hgvsWellDefined": "NP_001191232.1:p.Val617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2271,
          "referenceAllele": "G",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2071G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Val691Leu",
        "hgvsWellDefined": "NP_958816.1:p.Val691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "G",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1903G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Val635Leu",
        "hgvsWellDefined": "NP_958817.1:p.Val635Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579933771",
      "coordinates": [
        {
          "allele": "C",
          "end": 2278,
          "referenceAllele": "G",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2128G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Val710Leu",
        "hgvsWellDefined": "NP_000475.1:p.Val710Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2128G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2128G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Val710Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Val710Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1735G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Val579Leu",
        "hgvsWellDefined": "NP_001129601.1:p.Val579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2110,
          "referenceAllele": "G",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1960G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Val654Leu",
        "hgvsWellDefined": "NP_001129602.1:p.Val654Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2224,
          "referenceAllele": "G",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2074G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Val692Leu",
        "hgvsWellDefined": "NP_001191230.1:p.Val692Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2167,
          "referenceAllele": "G",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.2017G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Val673Leu",
        "hgvsWellDefined": "NP_001191231.1:p.Val673Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1999,
          "referenceAllele": "G",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1849G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Val617Leu",
        "hgvsWellDefined": "NP_001191232.1:p.Val617Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2221,
          "referenceAllele": "G",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2071G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Val691Leu",
        "hgvsWellDefined": "NP_958816.1:p.Val691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2053,
          "referenceAllele": "G",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1903G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Val635Leu",
        "hgvsWellDefined": "NP_958817.1:p.Val635Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1990,
          "referenceAllele": "G",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1798G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Val600Leu",
        "hgvsWellDefined": "NP_001129603.1:p.Val600Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2110,
          "referenceAllele": "G",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1960G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Val654Leu",
        "hgvsWellDefined": "NP_001372182.1:p.Val654Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}