{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409805524",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2162T>G (p.Val721Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264083A>C?assembly=hg19",
        "id": "chr21:g.27264083A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891771A>C?assembly=hg38",
        "id": "chr21:g.25891771A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 25891771,
          "referenceAllele": "A",
          "start": 25891770
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891771A>C",
        "CM000683.2:g.25891771A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 27264083,
          "referenceAllele": "A",
          "start": 27264082
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264083A>C",
        "CM000683.1:g.27264083A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 26185954,
          "referenceAllele": "A",
          "start": 26185953
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26185954A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 284050,
          "referenceAllele": "T",
          "start": 284049
        }
      ],
      "hgvs": [
        "NG_007376.1:g.284050T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 284358,
          "referenceAllele": "T",
          "start": 284357
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284358T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2129,
          "referenceAllele": "T",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2129T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 559,
          "referenceAllele": "T",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.559T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "referenceAllele": "T",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.828T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2312,
          "referenceAllele": "T",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2162T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Val721Gly",
        "hgvsWellDefined": "ENSP00000284981.4:p.Val721Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2162T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2162T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Val721Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Val721Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2196,
          "referenceAllele": "T",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2162T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Val721Gly",
        "hgvsWellDefined": "ENSP00000284981.4:p.Val721Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2084,
          "referenceAllele": "T",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1937T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Val646Gly",
        "hgvsWellDefined": "ENSP00000345463.5:p.Val646Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1896,
          "referenceAllele": "T",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1769T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Val590Gly",
        "hgvsWellDefined": "ENSP00000346129.3:p.Val590Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2272,
          "referenceAllele": "T",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2105T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Val702Gly",
        "hgvsWellDefined": "ENSP00000350578.3:p.Val702Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2155,
          "referenceAllele": "T",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2108T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Val703Gly",
        "hgvsWellDefined": "ENSP00000351796.3:p.Val703Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2024,
          "referenceAllele": "T",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1832T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Val611Gly",
        "hgvsWellDefined": "ENSP00000352760.4:p.Val611Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2028,
          "referenceAllele": "T",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1994T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Val665Gly",
        "hgvsWellDefined": "ENSP00000398879.2:p.Val665Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2356,
          "referenceAllele": "T",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2090T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Val697Gly",
        "hgvsWellDefined": "ENSP00000387483.2:p.Val697Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.509T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2362,
          "referenceAllele": "T",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2162T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Val721Gly",
        "hgvsWellDefined": "NP_000475.1:p.Val721Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2286,
          "referenceAllele": "T",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2090T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Val697Gly",
        "hgvsWellDefined": "NP_001129488.1:p.Val697Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1969,
          "referenceAllele": "T",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1769T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Val590Gly",
        "hgvsWellDefined": "NP_001129601.1:p.Val590Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2194,
          "referenceAllele": "T",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1994T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Val665Gly",
        "hgvsWellDefined": "NP_001129602.1:p.Val665Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2024,
          "referenceAllele": "T",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1832T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Val611Gly",
        "hgvsWellDefined": "NP_001129603.1:p.Val611Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2308,
          "referenceAllele": "T",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2108T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Val703Gly",
        "hgvsWellDefined": "NP_001191230.1:p.Val703Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2251,
          "referenceAllele": "T",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.2051T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Val684Gly",
        "hgvsWellDefined": "NP_001191231.1:p.Val684Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2083,
          "referenceAllele": "T",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1883T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Val628Gly",
        "hgvsWellDefined": "NP_001191232.1:p.Val628Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2305,
          "referenceAllele": "T",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2105T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Val702Gly",
        "hgvsWellDefined": "NP_958816.1:p.Val702Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2137,
          "referenceAllele": "T",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1937T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Val646Gly",
        "hgvsWellDefined": "NP_958817.1:p.Val646Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2312,
          "referenceAllele": "T",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2162T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Val721Gly",
        "hgvsWellDefined": "NP_000475.1:p.Val721Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2162T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2162T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Val721Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Val721Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1919,
          "referenceAllele": "T",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1769T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Val590Gly",
        "hgvsWellDefined": "NP_001129601.1:p.Val590Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2144,
          "referenceAllele": "T",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1994T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Val665Gly",
        "hgvsWellDefined": "NP_001129602.1:p.Val665Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2108T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Val703Gly",
        "hgvsWellDefined": "NP_001191230.1:p.Val703Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2201,
          "referenceAllele": "T",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.2051T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Val684Gly",
        "hgvsWellDefined": "NP_001191231.1:p.Val684Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2033,
          "referenceAllele": "T",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1883T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Val628Gly",
        "hgvsWellDefined": "NP_001191232.1:p.Val628Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2255,
          "referenceAllele": "T",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2105T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Val702Gly",
        "hgvsWellDefined": "NP_958816.1:p.Val702Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2087,
          "referenceAllele": "T",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1937T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Val646Gly",
        "hgvsWellDefined": "NP_958817.1:p.Val646Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2024,
          "referenceAllele": "T",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1832T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Val611Gly",
        "hgvsWellDefined": "NP_001129603.1:p.Val611Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2144,
          "referenceAllele": "T",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1994T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Val665Gly",
        "hgvsWellDefined": "NP_001372182.1:p.Val665Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}