{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA511686052",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2067G>C (p.Val689=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264178C>G?assembly=hg19",
        "id": "chr21:g.27264178C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 25891866,
          "referenceAllele": "C",
          "start": 25891865
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891866C>G",
        "CM000683.2:g.25891866C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 27264178,
          "referenceAllele": "C",
          "start": 27264177
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264178C>G",
        "CM000683.1:g.27264178C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 26186049,
          "referenceAllele": "C",
          "start": 26186048
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26186049C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 283955,
          "referenceAllele": "G",
          "start": 283954
        }
      ],
      "hgvs": [
        "NG_007376.1:g.283955G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284263,
          "referenceAllele": "G",
          "start": 284262
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284263G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2034,
          "referenceAllele": "G",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2034G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 464,
          "referenceAllele": "G",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.464G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.733G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2217,
          "referenceAllele": "G",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2067G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Val689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2067G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2067G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Val689="
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Val689="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2101,
          "referenceAllele": "G",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2067G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Val689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1989,
          "referenceAllele": "G",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1842G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Val614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1801,
          "referenceAllele": "G",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1674G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Val558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2177,
          "referenceAllele": "G",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2010G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Val670="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "G",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2013G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Val671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1929,
          "referenceAllele": "G",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1737G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Val579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1933,
          "referenceAllele": "G",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1899G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Val633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2261,
          "referenceAllele": "G",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.1995G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Val665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.414G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2832621218",
      "coordinates": [
        {
          "allele": "C",
          "end": 2267,
          "referenceAllele": "G",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2067G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Val689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2191,
          "referenceAllele": "G",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.1995G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Val665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1874,
          "referenceAllele": "G",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1674G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Val558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2099,
          "referenceAllele": "G",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1899G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Val633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1929,
          "referenceAllele": "G",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1737G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Val579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2213,
          "referenceAllele": "G",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2013G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Val671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2156,
          "referenceAllele": "G",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.1956G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Val652="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1988,
          "referenceAllele": "G",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1788G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Val596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2210,
          "referenceAllele": "G",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2010G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Val670="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3089127908",
      "coordinates": [
        {
          "allele": "C",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1842G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Val614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2832621218",
      "coordinates": [
        {
          "allele": "C",
          "end": 2217,
          "referenceAllele": "G",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2067G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Val689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2067G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2067G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Val689="
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Val689="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1824,
          "referenceAllele": "G",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1674G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Val558="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2049,
          "referenceAllele": "G",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1899G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Val633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2163,
          "referenceAllele": "G",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2013G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Val671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2106,
          "referenceAllele": "G",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.1956G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Val652="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1938,
          "referenceAllele": "G",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1788G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Val596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2160,
          "referenceAllele": "G",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2010G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Val670="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3089127908",
      "coordinates": [
        {
          "allele": "C",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1842G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Val614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1929,
          "referenceAllele": "G",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1737G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Val579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2049,
          "referenceAllele": "G",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1899G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Val633="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}