{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9987063",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2065G>A (p.Val689Met)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/21-27264180-C-T",
        "id": "21-27264180-C-T",
        "variant": "21:27264180 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264180C>T?assembly=hg19",
        "id": "chr21:g.27264180C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891868C>T?assembly=hg38",
        "id": "chr21:g.25891868C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776543778",
        "rs": 776543778
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-27264180-C-T?dataset=gnomad_r2_1",
        "id": "21-27264180-C-T",
        "variant": "21:27264180 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-25891868-C-T?dataset=gnomad_r3",
        "id": "21-25891868-C-T",
        "variant": "21:25891868 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-25891868-C-T?dataset=gnomad_r4",
        "id": "21-25891868-C-T",
        "variant": "21:25891868 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 25891868,
          "referenceAllele": "C",
          "start": 25891867
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891868C>T",
        "CM000683.2:g.25891868C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 27264180,
          "referenceAllele": "C",
          "start": 27264179
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264180C>T",
        "CM000683.1:g.27264180C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 26186051,
          "referenceAllele": "C",
          "start": 26186050
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26186051C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283953,
          "referenceAllele": "G",
          "start": 283952
        }
      ],
      "hgvs": [
        "NG_007376.1:g.283953G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284261,
          "referenceAllele": "G",
          "start": 284260
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284261G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2032,
          "referenceAllele": "G",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2032G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 462,
          "referenceAllele": "G",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.462G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 731,
          "referenceAllele": "G",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.731G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2215,
          "referenceAllele": "G",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2065G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Val689Met",
        "hgvsWellDefined": "ENSP00000284981.4:p.Val689Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2065G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2065G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Val689Met"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Val689Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2099,
          "referenceAllele": "G",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2065G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Val689Met",
        "hgvsWellDefined": "ENSP00000284981.4:p.Val689Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1987,
          "referenceAllele": "G",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1840G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Val614Met",
        "hgvsWellDefined": "ENSP00000345463.5:p.Val614Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1799,
          "referenceAllele": "G",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1672G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Val558Met",
        "hgvsWellDefined": "ENSP00000346129.3:p.Val558Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2175,
          "referenceAllele": "G",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2008G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Val670Met",
        "hgvsWellDefined": "ENSP00000350578.3:p.Val670Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2058,
          "referenceAllele": "G",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2011G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Val671Met",
        "hgvsWellDefined": "ENSP00000351796.3:p.Val671Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1927,
          "referenceAllele": "G",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1735G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Val579Met",
        "hgvsWellDefined": "ENSP00000352760.4:p.Val579Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1931,
          "referenceAllele": "G",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Val633Met",
        "hgvsWellDefined": "ENSP00000398879.2:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2259,
          "referenceAllele": "G",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.1993G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Val665Met",
        "hgvsWellDefined": "ENSP00000387483.2:p.Val665Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 412,
          "referenceAllele": "G",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.412G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579933646",
      "coordinates": [
        {
          "allele": "A",
          "end": 2265,
          "referenceAllele": "G",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2065G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Val689Met",
        "hgvsWellDefined": "NP_000475.1:p.Val689Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2189,
          "referenceAllele": "G",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.1993G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Val665Met",
        "hgvsWellDefined": "NP_001129488.1:p.Val665Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1672G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Val558Met",
        "hgvsWellDefined": "NP_001129601.1:p.Val558Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2097,
          "referenceAllele": "G",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Val633Met",
        "hgvsWellDefined": "NP_001129602.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1927,
          "referenceAllele": "G",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1735G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Val579Met",
        "hgvsWellDefined": "NP_001129603.1:p.Val579Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2211,
          "referenceAllele": "G",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2011G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Val671Met",
        "hgvsWellDefined": "NP_001191230.1:p.Val671Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2154,
          "referenceAllele": "G",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.1954G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Val652Met",
        "hgvsWellDefined": "NP_001191231.1:p.Val652Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1986,
          "referenceAllele": "G",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1786G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Val596Met",
        "hgvsWellDefined": "NP_001191232.1:p.Val596Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2208,
          "referenceAllele": "G",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2008G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Val670Met",
        "hgvsWellDefined": "NP_958816.1:p.Val670Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2040,
          "referenceAllele": "G",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1840G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Val614Met",
        "hgvsWellDefined": "NP_958817.1:p.Val614Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579933646",
      "coordinates": [
        {
          "allele": "A",
          "end": 2215,
          "referenceAllele": "G",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2065G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Val689Met",
        "hgvsWellDefined": "NP_000475.1:p.Val689Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2065G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2065G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Val689Met"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Val689Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1822,
          "referenceAllele": "G",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1672G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Val558Met",
        "hgvsWellDefined": "NP_001129601.1:p.Val558Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2047,
          "referenceAllele": "G",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Val633Met",
        "hgvsWellDefined": "NP_001129602.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2161,
          "referenceAllele": "G",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2011G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Val671Met",
        "hgvsWellDefined": "NP_001191230.1:p.Val671Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2104,
          "referenceAllele": "G",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.1954G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Val652Met",
        "hgvsWellDefined": "NP_001191231.1:p.Val652Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1936,
          "referenceAllele": "G",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1786G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Val596Met",
        "hgvsWellDefined": "NP_001191232.1:p.Val596Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2158,
          "referenceAllele": "G",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2008G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Val670Met",
        "hgvsWellDefined": "NP_958816.1:p.Val670Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1990,
          "referenceAllele": "G",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1840G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Val614Met",
        "hgvsWellDefined": "NP_958817.1:p.Val614Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1927,
          "referenceAllele": "G",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1735G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Val579Met",
        "hgvsWellDefined": "NP_001129603.1:p.Val579Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2047,
          "referenceAllele": "G",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1897G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Val633Met",
        "hgvsWellDefined": "NP_001372182.1:p.Val633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}