{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409805691",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2075C>A (p.Ala692Glu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6261027",
        "active": true,
        "id": "COSM6261027"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264170G>T?assembly=hg19",
        "id": "chr21:g.27264170G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891858G>T?assembly=hg38",
        "id": "chr21:g.25891858G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 25891858,
          "referenceAllele": "G",
          "start": 25891857
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891858G>T",
        "CM000683.2:g.25891858G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 27264170,
          "referenceAllele": "G",
          "start": 27264169
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264170G>T",
        "CM000683.1:g.27264170G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 26186041,
          "referenceAllele": "G",
          "start": 26186040
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26186041G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283963,
          "referenceAllele": "C",
          "start": 283962
        }
      ],
      "hgvs": [
        "NG_007376.1:g.283963C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284271,
          "referenceAllele": "C",
          "start": 284270
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284271C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2042,
          "referenceAllele": "C",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2042C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "referenceAllele": "C",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.472C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.741C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2225,
          "referenceAllele": "C",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2075C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Ala692Glu",
        "hgvsWellDefined": "ENSP00000284981.4:p.Ala692Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2075C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2075C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Ala692Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Ala692Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2109,
          "referenceAllele": "C",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2075C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Ala692Glu",
        "hgvsWellDefined": "ENSP00000284981.4:p.Ala692Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1997,
          "referenceAllele": "C",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1850C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Ala617Glu",
        "hgvsWellDefined": "ENSP00000345463.5:p.Ala617Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1809,
          "referenceAllele": "C",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1682C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Ala561Glu",
        "hgvsWellDefined": "ENSP00000346129.3:p.Ala561Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2185,
          "referenceAllele": "C",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2018C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Ala673Glu",
        "hgvsWellDefined": "ENSP00000350578.3:p.Ala673Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2068,
          "referenceAllele": "C",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2021C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Ala674Glu",
        "hgvsWellDefined": "ENSP00000351796.3:p.Ala674Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1937,
          "referenceAllele": "C",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1745C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Ala582Glu",
        "hgvsWellDefined": "ENSP00000352760.4:p.Ala582Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1941,
          "referenceAllele": "C",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1907C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Ala636Glu",
        "hgvsWellDefined": "ENSP00000398879.2:p.Ala636Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2269,
          "referenceAllele": "C",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2003C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Ala668Glu",
        "hgvsWellDefined": "ENSP00000387483.2:p.Ala668Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.422C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579986196",
      "coordinates": [
        {
          "allele": "A",
          "end": 2275,
          "referenceAllele": "C",
          "start": 2274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2075C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Ala692Glu",
        "hgvsWellDefined": "NP_000475.1:p.Ala692Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2199,
          "referenceAllele": "C",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2003C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Ala668Glu",
        "hgvsWellDefined": "NP_001129488.1:p.Ala668Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1882,
          "referenceAllele": "C",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1682C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Ala561Glu",
        "hgvsWellDefined": "NP_001129601.1:p.Ala561Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2107,
          "referenceAllele": "C",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1907C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Ala636Glu",
        "hgvsWellDefined": "NP_001129602.1:p.Ala636Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1937,
          "referenceAllele": "C",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1745C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Ala582Glu",
        "hgvsWellDefined": "NP_001129603.1:p.Ala582Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2221,
          "referenceAllele": "C",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2021C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Ala674Glu",
        "hgvsWellDefined": "NP_001191230.1:p.Ala674Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2164,
          "referenceAllele": "C",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.1964C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Ala655Glu",
        "hgvsWellDefined": "NP_001191231.1:p.Ala655Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1996,
          "referenceAllele": "C",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1796C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Ala599Glu",
        "hgvsWellDefined": "NP_001191232.1:p.Ala599Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2218,
          "referenceAllele": "C",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2018C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Ala673Glu",
        "hgvsWellDefined": "NP_958816.1:p.Ala673Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2050,
          "referenceAllele": "C",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1850C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Ala617Glu",
        "hgvsWellDefined": "NP_958817.1:p.Ala617Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579986196",
      "coordinates": [
        {
          "allele": "A",
          "end": 2225,
          "referenceAllele": "C",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2075C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Ala692Glu",
        "hgvsWellDefined": "NP_000475.1:p.Ala692Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2075C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2075C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Ala692Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Ala692Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1832,
          "referenceAllele": "C",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1682C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Ala561Glu",
        "hgvsWellDefined": "NP_001129601.1:p.Ala561Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2057,
          "referenceAllele": "C",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1907C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Ala636Glu",
        "hgvsWellDefined": "NP_001129602.1:p.Ala636Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2021C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Ala674Glu",
        "hgvsWellDefined": "NP_001191230.1:p.Ala674Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2114,
          "referenceAllele": "C",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.1964C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Ala655Glu",
        "hgvsWellDefined": "NP_001191231.1:p.Ala655Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1796C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Ala599Glu",
        "hgvsWellDefined": "NP_001191232.1:p.Ala599Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2168,
          "referenceAllele": "C",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2018C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Ala673Glu",
        "hgvsWellDefined": "NP_958816.1:p.Ala673Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2000,
          "referenceAllele": "C",
          "start": 1999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1850C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Ala617Glu",
        "hgvsWellDefined": "NP_958817.1:p.Ala617Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1937,
          "referenceAllele": "C",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1745C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Ala582Glu",
        "hgvsWellDefined": "NP_001129603.1:p.Ala582Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2057,
          "referenceAllele": "C",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1907C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Ala636Glu",
        "hgvsWellDefined": "NP_001372182.1:p.Ala636Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}