{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409806552",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.1985A>C (p.Lys662Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27269964T>G?assembly=hg19",
        "id": "chr21:g.27269964T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25897652T>G?assembly=hg38",
        "id": "chr21:g.25897652T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 25897652,
          "referenceAllele": "T",
          "start": 25897651
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25897652T>G",
        "CM000683.2:g.25897652T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 27269964,
          "referenceAllele": "T",
          "start": 27269963
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27269964T>G",
        "CM000683.1:g.27269964T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 26191835,
          "referenceAllele": "T",
          "start": 26191834
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26191835T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 278169,
          "referenceAllele": "A",
          "start": 278168
        }
      ],
      "hgvs": [
        "NG_007376.1:g.278169A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 278477,
          "referenceAllele": "A",
          "start": 278476
        }
      ],
      "hgvs": [
        "NG_007376.2:g.278477A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1952,
          "referenceAllele": "A",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.1952A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "referenceAllele": "A",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.382A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "referenceAllele": "A",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.651A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2135,
          "referenceAllele": "A",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Lys662Thr",
        "hgvsWellDefined": "ENSP00000284981.4:p.Lys662Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.1985A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.1985A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Lys662Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Lys662Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2019,
          "referenceAllele": "A",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Lys662Thr",
        "hgvsWellDefined": "ENSP00000284981.4:p.Lys662Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1907,
          "referenceAllele": "A",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1760A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Lys587Thr",
        "hgvsWellDefined": "ENSP00000345463.5:p.Lys587Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1719,
          "referenceAllele": "A",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1592A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Lys531Thr",
        "hgvsWellDefined": "ENSP00000346129.3:p.Lys531Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2095,
          "referenceAllele": "A",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.1928A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Lys643Thr",
        "hgvsWellDefined": "ENSP00000350578.3:p.Lys643Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1978,
          "referenceAllele": "A",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.1931A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Lys644Thr",
        "hgvsWellDefined": "ENSP00000351796.3:p.Lys644Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1847,
          "referenceAllele": "A",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1655A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Lys552Thr",
        "hgvsWellDefined": "ENSP00000352760.4:p.Lys552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1851,
          "referenceAllele": "A",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1817A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Lys606Thr",
        "hgvsWellDefined": "ENSP00000398879.2:p.Lys606Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2179,
          "referenceAllele": "A",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.1913A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Lys638Thr",
        "hgvsWellDefined": "ENSP00000387483.2:p.Lys638Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "referenceAllele": "A",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.332A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2185,
          "referenceAllele": "A",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Lys662Thr",
        "hgvsWellDefined": "NP_000475.1:p.Lys662Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2109,
          "referenceAllele": "A",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.1913A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Lys638Thr",
        "hgvsWellDefined": "NP_001129488.1:p.Lys638Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1792,
          "referenceAllele": "A",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1592A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Lys531Thr",
        "hgvsWellDefined": "NP_001129601.1:p.Lys531Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2017,
          "referenceAllele": "A",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1817A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Lys606Thr",
        "hgvsWellDefined": "NP_001129602.1:p.Lys606Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1847,
          "referenceAllele": "A",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1655A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Lys552Thr",
        "hgvsWellDefined": "NP_001129603.1:p.Lys552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2131,
          "referenceAllele": "A",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.1931A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Lys644Thr",
        "hgvsWellDefined": "NP_001191230.1:p.Lys644Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2074,
          "referenceAllele": "A",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.1874A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Lys625Thr",
        "hgvsWellDefined": "NP_001191231.1:p.Lys625Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "A",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1706A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Lys569Thr",
        "hgvsWellDefined": "NP_001191232.1:p.Lys569Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2128,
          "referenceAllele": "A",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.1928A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Lys643Thr",
        "hgvsWellDefined": "NP_958816.1:p.Lys643Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1960,
          "referenceAllele": "A",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1760A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Lys587Thr",
        "hgvsWellDefined": "NP_958817.1:p.Lys587Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2135,
          "referenceAllele": "A",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.1985A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Lys662Thr",
        "hgvsWellDefined": "NP_000475.1:p.Lys662Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.1985A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.1985A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Lys662Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Lys662Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1742,
          "referenceAllele": "A",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1592A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Lys531Thr",
        "hgvsWellDefined": "NP_001129601.1:p.Lys531Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1967,
          "referenceAllele": "A",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1817A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Lys606Thr",
        "hgvsWellDefined": "NP_001129602.1:p.Lys606Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2081,
          "referenceAllele": "A",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.1931A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Lys644Thr",
        "hgvsWellDefined": "NP_001191230.1:p.Lys644Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2024,
          "referenceAllele": "A",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.1874A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Lys625Thr",
        "hgvsWellDefined": "NP_001191231.1:p.Lys625Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1856,
          "referenceAllele": "A",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1706A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Lys569Thr",
        "hgvsWellDefined": "NP_001191232.1:p.Lys569Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2078,
          "referenceAllele": "A",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.1928A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Lys643Thr",
        "hgvsWellDefined": "NP_958816.1:p.Lys643Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1910,
          "referenceAllele": "A",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1760A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Lys587Thr",
        "hgvsWellDefined": "NP_958817.1:p.Lys587Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1847,
          "referenceAllele": "A",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1655A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Lys552Thr",
        "hgvsWellDefined": "NP_001129603.1:p.Lys552Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1967,
          "referenceAllele": "A",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1817A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Lys606Thr",
        "hgvsWellDefined": "NP_001372182.1:p.Lys606Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}