{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409805470",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2185A>G (p.Thr729Ala)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1566114",
        "active": true,
        "id": "COSM1566114"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264060T>C?assembly=hg19",
        "id": "chr21:g.27264060T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891748T>C?assembly=hg38",
        "id": "chr21:g.25891748T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 25891748,
          "referenceAllele": "T",
          "start": 25891747
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891748T>C",
        "CM000683.2:g.25891748T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 27264060,
          "referenceAllele": "T",
          "start": 27264059
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264060T>C",
        "CM000683.1:g.27264060T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 26185931,
          "referenceAllele": "T",
          "start": 26185930
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26185931T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 284073,
          "referenceAllele": "A",
          "start": 284072
        }
      ],
      "hgvs": [
        "NG_007376.1:g.284073A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 284381,
          "referenceAllele": "A",
          "start": 284380
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284381A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2152,
          "referenceAllele": "A",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2152A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "A",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.582A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 851,
          "referenceAllele": "A",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.851A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2335,
          "referenceAllele": "A",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2185A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Thr729Ala",
        "hgvsWellDefined": "ENSP00000284981.4:p.Thr729Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2185A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2185A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Thr729Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Thr729Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2219,
          "referenceAllele": "A",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2185A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Thr729Ala",
        "hgvsWellDefined": "ENSP00000284981.4:p.Thr729Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2107,
          "referenceAllele": "A",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1960A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Thr654Ala",
        "hgvsWellDefined": "ENSP00000345463.5:p.Thr654Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1919,
          "referenceAllele": "A",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Thr598Ala",
        "hgvsWellDefined": "ENSP00000346129.3:p.Thr598Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2295,
          "referenceAllele": "A",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2128A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Thr710Ala",
        "hgvsWellDefined": "ENSP00000350578.3:p.Thr710Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2178,
          "referenceAllele": "A",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2131A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Thr711Ala",
        "hgvsWellDefined": "ENSP00000351796.3:p.Thr711Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2047,
          "referenceAllele": "A",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1855A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Thr619Ala",
        "hgvsWellDefined": "ENSP00000352760.4:p.Thr619Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2051,
          "referenceAllele": "A",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.2017A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Thr673Ala",
        "hgvsWellDefined": "ENSP00000398879.2:p.Thr673Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2379,
          "referenceAllele": "A",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2113A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Thr705Ala",
        "hgvsWellDefined": "ENSP00000387483.2:p.Thr705Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "referenceAllele": "A",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.532A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2385,
          "referenceAllele": "A",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2185A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Thr729Ala",
        "hgvsWellDefined": "NP_000475.1:p.Thr729Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2309,
          "referenceAllele": "A",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2113A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Thr705Ala",
        "hgvsWellDefined": "NP_001129488.1:p.Thr705Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "A",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Thr598Ala",
        "hgvsWellDefined": "NP_001129601.1:p.Thr598Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "A",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.2017A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Thr673Ala",
        "hgvsWellDefined": "NP_001129602.1:p.Thr673Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2047,
          "referenceAllele": "A",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1855A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Thr619Ala",
        "hgvsWellDefined": "NP_001129603.1:p.Thr619Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2331,
          "referenceAllele": "A",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2131A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Thr711Ala",
        "hgvsWellDefined": "NP_001191230.1:p.Thr711Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2274,
          "referenceAllele": "A",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.2074A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Thr692Ala",
        "hgvsWellDefined": "NP_001191231.1:p.Thr692Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2106,
          "referenceAllele": "A",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1906A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Thr636Ala",
        "hgvsWellDefined": "NP_001191232.1:p.Thr636Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2328,
          "referenceAllele": "A",
          "start": 2327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2128A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Thr710Ala",
        "hgvsWellDefined": "NP_958816.1:p.Thr710Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2160,
          "referenceAllele": "A",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1960A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Thr654Ala",
        "hgvsWellDefined": "NP_958817.1:p.Thr654Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2335,
          "referenceAllele": "A",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2185A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Thr729Ala",
        "hgvsWellDefined": "NP_000475.1:p.Thr729Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2185A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2185A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Thr729Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Thr729Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1942,
          "referenceAllele": "A",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1792A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Thr598Ala",
        "hgvsWellDefined": "NP_001129601.1:p.Thr598Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2167,
          "referenceAllele": "A",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.2017A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Thr673Ala",
        "hgvsWellDefined": "NP_001129602.1:p.Thr673Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2281,
          "referenceAllele": "A",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2131A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Thr711Ala",
        "hgvsWellDefined": "NP_001191230.1:p.Thr711Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2224,
          "referenceAllele": "A",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.2074A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Thr692Ala",
        "hgvsWellDefined": "NP_001191231.1:p.Thr692Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2056,
          "referenceAllele": "A",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1906A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Thr636Ala",
        "hgvsWellDefined": "NP_001191232.1:p.Thr636Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2278,
          "referenceAllele": "A",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2128A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Thr710Ala",
        "hgvsWellDefined": "NP_958816.1:p.Thr710Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2110,
          "referenceAllele": "A",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1960A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Thr654Ala",
        "hgvsWellDefined": "NP_958817.1:p.Thr654Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2047,
          "referenceAllele": "A",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1855A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Thr619Ala",
        "hgvsWellDefined": "NP_001129603.1:p.Thr619Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2167,
          "referenceAllele": "A",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.2017A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Thr673Ala",
        "hgvsWellDefined": "NP_001372182.1:p.Thr673Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}