{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409806542",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.1988C>G (p.Thr663Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27269961G>C?assembly=hg19",
        "id": "chr21:g.27269961G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25897649G>C?assembly=hg38",
        "id": "chr21:g.25897649G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 25897649,
          "referenceAllele": "G",
          "start": 25897648
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25897649G>C",
        "CM000683.2:g.25897649G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 27269961,
          "referenceAllele": "G",
          "start": 27269960
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27269961G>C",
        "CM000683.1:g.27269961G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 26191832,
          "referenceAllele": "G",
          "start": 26191831
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26191832G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 278172,
          "referenceAllele": "C",
          "start": 278171
        }
      ],
      "hgvs": [
        "NG_007376.1:g.278172C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 278480,
          "referenceAllele": "C",
          "start": 278479
        }
      ],
      "hgvs": [
        "NG_007376.2:g.278480C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "referenceAllele": "C",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.1955C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.385C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "referenceAllele": "C",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.654C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.1988C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Thr663Arg",
        "hgvsWellDefined": "ENSP00000284981.4:p.Thr663Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.1988C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.1988C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Thr663Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Thr663Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2022,
          "referenceAllele": "C",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.1988C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Thr663Arg",
        "hgvsWellDefined": "ENSP00000284981.4:p.Thr663Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1763C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Thr588Arg",
        "hgvsWellDefined": "ENSP00000345463.5:p.Thr588Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1722,
          "referenceAllele": "C",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1595C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Thr532Arg",
        "hgvsWellDefined": "ENSP00000346129.3:p.Thr532Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2098,
          "referenceAllele": "C",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.1931C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Thr644Arg",
        "hgvsWellDefined": "ENSP00000350578.3:p.Thr644Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1981,
          "referenceAllele": "C",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.1934C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Thr645Arg",
        "hgvsWellDefined": "ENSP00000351796.3:p.Thr645Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1658C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Thr553Arg",
        "hgvsWellDefined": "ENSP00000352760.4:p.Thr553Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1854,
          "referenceAllele": "C",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1820C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Thr607Arg",
        "hgvsWellDefined": "ENSP00000398879.2:p.Thr607Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2182,
          "referenceAllele": "C",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.1916C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Thr639Arg",
        "hgvsWellDefined": "ENSP00000387483.2:p.Thr639Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.335C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2188,
          "referenceAllele": "C",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.1988C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Thr663Arg",
        "hgvsWellDefined": "NP_000475.1:p.Thr663Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2112,
          "referenceAllele": "C",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.1916C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Thr639Arg",
        "hgvsWellDefined": "NP_001129488.1:p.Thr639Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1795,
          "referenceAllele": "C",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1595C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Thr532Arg",
        "hgvsWellDefined": "NP_001129601.1:p.Thr532Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2020,
          "referenceAllele": "C",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1820C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Thr607Arg",
        "hgvsWellDefined": "NP_001129602.1:p.Thr607Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1658C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Thr553Arg",
        "hgvsWellDefined": "NP_001129603.1:p.Thr553Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2134,
          "referenceAllele": "C",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.1934C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Thr645Arg",
        "hgvsWellDefined": "NP_001191230.1:p.Thr645Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2077,
          "referenceAllele": "C",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.1877C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Thr626Arg",
        "hgvsWellDefined": "NP_001191231.1:p.Thr626Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1909,
          "referenceAllele": "C",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1709C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Thr570Arg",
        "hgvsWellDefined": "NP_001191232.1:p.Thr570Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2131,
          "referenceAllele": "C",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.1931C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Thr644Arg",
        "hgvsWellDefined": "NP_958816.1:p.Thr644Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1963,
          "referenceAllele": "C",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1763C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Thr588Arg",
        "hgvsWellDefined": "NP_958817.1:p.Thr588Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.1988C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Thr663Arg",
        "hgvsWellDefined": "NP_000475.1:p.Thr663Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.1988C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.1988C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Thr663Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Thr663Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1595C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Thr532Arg",
        "hgvsWellDefined": "NP_001129601.1:p.Thr532Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1970,
          "referenceAllele": "C",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1820C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Thr607Arg",
        "hgvsWellDefined": "NP_001129602.1:p.Thr607Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2084,
          "referenceAllele": "C",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.1934C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Thr645Arg",
        "hgvsWellDefined": "NP_001191230.1:p.Thr645Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2027,
          "referenceAllele": "C",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.1877C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Thr626Arg",
        "hgvsWellDefined": "NP_001191231.1:p.Thr626Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1859,
          "referenceAllele": "C",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1709C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Thr570Arg",
        "hgvsWellDefined": "NP_001191232.1:p.Thr570Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.1931C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Thr644Arg",
        "hgvsWellDefined": "NP_958816.1:p.Thr644Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "C",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1763C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Thr588Arg",
        "hgvsWellDefined": "NP_958817.1:p.Thr588Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1658C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Thr553Arg",
        "hgvsWellDefined": "NP_001129603.1:p.Thr553Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1970,
          "referenceAllele": "C",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1820C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Thr607Arg",
        "hgvsWellDefined": "NP_001372182.1:p.Thr607Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}