{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409805546",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2153T>A (p.Ile718Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264092A>T?assembly=hg19",
        "id": "chr21:g.27264092A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891780A>T?assembly=hg38",
        "id": "chr21:g.25891780A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 25891780,
          "referenceAllele": "A",
          "start": 25891779
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891780A>T",
        "CM000683.2:g.25891780A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 27264092,
          "referenceAllele": "A",
          "start": 27264091
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264092A>T",
        "CM000683.1:g.27264092A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 26185963,
          "referenceAllele": "A",
          "start": 26185962
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26185963A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284041,
          "referenceAllele": "T",
          "start": 284040
        }
      ],
      "hgvs": [
        "NG_007376.1:g.284041T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284349,
          "referenceAllele": "T",
          "start": 284348
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284349T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2120,
          "referenceAllele": "T",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2120T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "T",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.550T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 819,
          "referenceAllele": "T",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.819T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2303,
          "referenceAllele": "T",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2153T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Ile718Asn",
        "hgvsWellDefined": "ENSP00000284981.4:p.Ile718Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2153T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2153T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Ile718Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Ile718Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2187,
          "referenceAllele": "T",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2153T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Ile718Asn",
        "hgvsWellDefined": "ENSP00000284981.4:p.Ile718Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2075,
          "referenceAllele": "T",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1928T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Ile643Asn",
        "hgvsWellDefined": "ENSP00000345463.5:p.Ile643Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "referenceAllele": "T",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1760T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Ile587Asn",
        "hgvsWellDefined": "ENSP00000346129.3:p.Ile587Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2263,
          "referenceAllele": "T",
          "start": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2096T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Ile699Asn",
        "hgvsWellDefined": "ENSP00000350578.3:p.Ile699Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2146,
          "referenceAllele": "T",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2099T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Ile700Asn",
        "hgvsWellDefined": "ENSP00000351796.3:p.Ile700Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2015,
          "referenceAllele": "T",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1823T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Ile608Asn",
        "hgvsWellDefined": "ENSP00000352760.4:p.Ile608Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2019,
          "referenceAllele": "T",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1985T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Ile662Asn",
        "hgvsWellDefined": "ENSP00000398879.2:p.Ile662Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2347,
          "referenceAllele": "T",
          "start": 2346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2081T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Ile694Asn",
        "hgvsWellDefined": "ENSP00000387483.2:p.Ile694Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "referenceAllele": "T",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.500T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2353,
          "referenceAllele": "T",
          "start": 2352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2153T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Ile718Asn",
        "hgvsWellDefined": "NP_000475.1:p.Ile718Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "referenceAllele": "T",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2081T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Ile694Asn",
        "hgvsWellDefined": "NP_001129488.1:p.Ile694Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1960,
          "referenceAllele": "T",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1760T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Ile587Asn",
        "hgvsWellDefined": "NP_001129601.1:p.Ile587Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2185,
          "referenceAllele": "T",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1985T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Ile662Asn",
        "hgvsWellDefined": "NP_001129602.1:p.Ile662Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2015,
          "referenceAllele": "T",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1823T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Ile608Asn",
        "hgvsWellDefined": "NP_001129603.1:p.Ile608Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2299,
          "referenceAllele": "T",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2099T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Ile700Asn",
        "hgvsWellDefined": "NP_001191230.1:p.Ile700Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2242,
          "referenceAllele": "T",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.2042T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Ile681Asn",
        "hgvsWellDefined": "NP_001191231.1:p.Ile681Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2074,
          "referenceAllele": "T",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1874T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Ile625Asn",
        "hgvsWellDefined": "NP_001191232.1:p.Ile625Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2296,
          "referenceAllele": "T",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2096T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Ile699Asn",
        "hgvsWellDefined": "NP_958816.1:p.Ile699Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2128,
          "referenceAllele": "T",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1928T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Ile643Asn",
        "hgvsWellDefined": "NP_958817.1:p.Ile643Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2303,
          "referenceAllele": "T",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2153T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Ile718Asn",
        "hgvsWellDefined": "NP_000475.1:p.Ile718Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2153T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2153T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Ile718Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Ile718Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1910,
          "referenceAllele": "T",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1760T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Ile587Asn",
        "hgvsWellDefined": "NP_001129601.1:p.Ile587Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2135,
          "referenceAllele": "T",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1985T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Ile662Asn",
        "hgvsWellDefined": "NP_001129602.1:p.Ile662Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2249,
          "referenceAllele": "T",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2099T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Ile700Asn",
        "hgvsWellDefined": "NP_001191230.1:p.Ile700Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2192,
          "referenceAllele": "T",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.2042T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Ile681Asn",
        "hgvsWellDefined": "NP_001191231.1:p.Ile681Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "T",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1874T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Ile625Asn",
        "hgvsWellDefined": "NP_001191232.1:p.Ile625Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2246,
          "referenceAllele": "T",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2096T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Ile699Asn",
        "hgvsWellDefined": "NP_958816.1:p.Ile699Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2078,
          "referenceAllele": "T",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1928T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Ile643Asn",
        "hgvsWellDefined": "NP_958817.1:p.Ile643Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2015,
          "referenceAllele": "T",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1823T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Ile608Asn",
        "hgvsWellDefined": "NP_001129603.1:p.Ile608Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2135,
          "referenceAllele": "T",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1985T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Ile662Asn",
        "hgvsWellDefined": "NP_001372182.1:p.Ile662Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}