{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409805450",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2194C>T (p.His732Tyr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264051G>A?assembly=hg19",
        "id": "chr21:g.27264051G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891739G>A?assembly=hg38",
        "id": "chr21:g.25891739G>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 25891739,
          "referenceAllele": "G",
          "start": 25891738
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891739G>A",
        "CM000683.2:g.25891739G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 27264051,
          "referenceAllele": "G",
          "start": 27264050
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264051G>A",
        "CM000683.1:g.27264051G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 26185922,
          "referenceAllele": "G",
          "start": 26185921
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26185922G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284082,
          "referenceAllele": "C",
          "start": 284081
        }
      ],
      "hgvs": [
        "NG_007376.1:g.284082C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284390,
          "referenceAllele": "C",
          "start": 284389
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284390C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2161,
          "referenceAllele": "C",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2161C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.591C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.860C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2344,
          "referenceAllele": "C",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.His732Tyr",
        "hgvsWellDefined": "ENSP00000284981.4:p.His732Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2194C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2194C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.His732Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.His732Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2228,
          "referenceAllele": "C",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.His732Tyr",
        "hgvsWellDefined": "ENSP00000284981.4:p.His732Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2116,
          "referenceAllele": "C",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1969C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.His657Tyr",
        "hgvsWellDefined": "ENSP00000345463.5:p.His657Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1801C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.His601Tyr",
        "hgvsWellDefined": "ENSP00000346129.3:p.His601Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2304,
          "referenceAllele": "C",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2137C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.His713Tyr",
        "hgvsWellDefined": "ENSP00000350578.3:p.His713Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2187,
          "referenceAllele": "C",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.His714Tyr",
        "hgvsWellDefined": "ENSP00000351796.3:p.His714Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2056,
          "referenceAllele": "C",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1864C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.His622Tyr",
        "hgvsWellDefined": "ENSP00000352760.4:p.His622Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2060,
          "referenceAllele": "C",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.2026C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.His676Tyr",
        "hgvsWellDefined": "ENSP00000398879.2:p.His676Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2388,
          "referenceAllele": "C",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2122C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.His708Tyr",
        "hgvsWellDefined": "ENSP00000387483.2:p.His708Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.541C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2394,
          "referenceAllele": "C",
          "start": 2393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2194C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.His732Tyr",
        "hgvsWellDefined": "NP_000475.1:p.His732Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2318,
          "referenceAllele": "C",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2122C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.His708Tyr",
        "hgvsWellDefined": "NP_001129488.1:p.His708Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1801C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.His601Tyr",
        "hgvsWellDefined": "NP_001129601.1:p.His601Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2226,
          "referenceAllele": "C",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.2026C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.His676Tyr",
        "hgvsWellDefined": "NP_001129602.1:p.His676Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2056,
          "referenceAllele": "C",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1864C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.His622Tyr",
        "hgvsWellDefined": "NP_001129603.1:p.His622Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2340,
          "referenceAllele": "C",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2140C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.His714Tyr",
        "hgvsWellDefined": "NP_001191230.1:p.His714Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2283,
          "referenceAllele": "C",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.2083C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.His695Tyr",
        "hgvsWellDefined": "NP_001191231.1:p.His695Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2115,
          "referenceAllele": "C",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1915C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.His639Tyr",
        "hgvsWellDefined": "NP_001191232.1:p.His639Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2337,
          "referenceAllele": "C",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2137C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.His713Tyr",
        "hgvsWellDefined": "NP_958816.1:p.His713Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1969C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.His657Tyr",
        "hgvsWellDefined": "NP_958817.1:p.His657Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2344,
          "referenceAllele": "C",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2194C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.His732Tyr",
        "hgvsWellDefined": "NP_000475.1:p.His732Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2194C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2194C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.His732Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.His732Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1801C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.His601Tyr",
        "hgvsWellDefined": "NP_001129601.1:p.His601Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2176,
          "referenceAllele": "C",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.2026C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.His676Tyr",
        "hgvsWellDefined": "NP_001129602.1:p.His676Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2140C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.His714Tyr",
        "hgvsWellDefined": "NP_001191230.1:p.His714Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2233,
          "referenceAllele": "C",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.2083C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.His695Tyr",
        "hgvsWellDefined": "NP_001191231.1:p.His695Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2065,
          "referenceAllele": "C",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1915C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.His639Tyr",
        "hgvsWellDefined": "NP_001191232.1:p.His639Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2287,
          "referenceAllele": "C",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2137C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.His713Tyr",
        "hgvsWellDefined": "NP_958816.1:p.His713Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2119,
          "referenceAllele": "C",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1969C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.His657Tyr",
        "hgvsWellDefined": "NP_958817.1:p.His657Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2056,
          "referenceAllele": "C",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1864C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.His622Tyr",
        "hgvsWellDefined": "NP_001129603.1:p.His622Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2176,
          "referenceAllele": "C",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.2026C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.His676Tyr",
        "hgvsWellDefined": "NP_001372182.1:p.His676Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}