{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409805515",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2166G>T (p.Met722Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264079C>A?assembly=hg19",
        "id": "chr21:g.27264079C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891767C>A?assembly=hg38",
        "id": "chr21:g.25891767C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 25891767,
          "referenceAllele": "C",
          "start": 25891766
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891767C>A",
        "CM000683.2:g.25891767C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 27264079,
          "referenceAllele": "C",
          "start": 27264078
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264079C>A",
        "CM000683.1:g.27264079C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 26185950,
          "referenceAllele": "C",
          "start": 26185949
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26185950C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284054,
          "referenceAllele": "G",
          "start": 284053
        }
      ],
      "hgvs": [
        "NG_007376.1:g.284054G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284362,
          "referenceAllele": "G",
          "start": 284361
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284362G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2133,
          "referenceAllele": "G",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2133G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.563G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.832G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2316,
          "referenceAllele": "G",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2166G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Met722Ile",
        "hgvsWellDefined": "ENSP00000284981.4:p.Met722Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2166G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2166G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Met722Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Met722Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2200,
          "referenceAllele": "G",
          "start": 2199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2166G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Met722Ile",
        "hgvsWellDefined": "ENSP00000284981.4:p.Met722Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2088,
          "referenceAllele": "G",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1941G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Met647Ile",
        "hgvsWellDefined": "ENSP00000345463.5:p.Met647Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1900,
          "referenceAllele": "G",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1773G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Met591Ile",
        "hgvsWellDefined": "ENSP00000346129.3:p.Met591Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2276,
          "referenceAllele": "G",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2109G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Met703Ile",
        "hgvsWellDefined": "ENSP00000350578.3:p.Met703Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2112G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Met704Ile",
        "hgvsWellDefined": "ENSP00000351796.3:p.Met704Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2028,
          "referenceAllele": "G",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1836G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Met612Ile",
        "hgvsWellDefined": "ENSP00000352760.4:p.Met612Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2032,
          "referenceAllele": "G",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1998G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Met666Ile",
        "hgvsWellDefined": "ENSP00000398879.2:p.Met666Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2360,
          "referenceAllele": "G",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2094G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Met698Ile",
        "hgvsWellDefined": "ENSP00000387483.2:p.Met698Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.513G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2366,
          "referenceAllele": "G",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2166G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Met722Ile",
        "hgvsWellDefined": "NP_000475.1:p.Met722Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2290,
          "referenceAllele": "G",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2094G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Met698Ile",
        "hgvsWellDefined": "NP_001129488.1:p.Met698Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1973,
          "referenceAllele": "G",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1773G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Met591Ile",
        "hgvsWellDefined": "NP_001129601.1:p.Met591Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2198,
          "referenceAllele": "G",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1998G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Met666Ile",
        "hgvsWellDefined": "NP_001129602.1:p.Met666Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2028,
          "referenceAllele": "G",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1836G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Met612Ile",
        "hgvsWellDefined": "NP_001129603.1:p.Met612Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2312,
          "referenceAllele": "G",
          "start": 2311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2112G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Met704Ile",
        "hgvsWellDefined": "NP_001191230.1:p.Met704Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2255,
          "referenceAllele": "G",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.2055G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Met685Ile",
        "hgvsWellDefined": "NP_001191231.1:p.Met685Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2087,
          "referenceAllele": "G",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1887G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Met629Ile",
        "hgvsWellDefined": "NP_001191232.1:p.Met629Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2309,
          "referenceAllele": "G",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2109G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Met703Ile",
        "hgvsWellDefined": "NP_958816.1:p.Met703Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "G",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1941G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Met647Ile",
        "hgvsWellDefined": "NP_958817.1:p.Met647Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2316,
          "referenceAllele": "G",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2166G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Met722Ile",
        "hgvsWellDefined": "NP_000475.1:p.Met722Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2166G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2166G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Met722Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Met722Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1923,
          "referenceAllele": "G",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1773G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Met591Ile",
        "hgvsWellDefined": "NP_001129601.1:p.Met591Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2148,
          "referenceAllele": "G",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1998G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Met666Ile",
        "hgvsWellDefined": "NP_001129602.1:p.Met666Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2262,
          "referenceAllele": "G",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2112G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Met704Ile",
        "hgvsWellDefined": "NP_001191230.1:p.Met704Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2205,
          "referenceAllele": "G",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.2055G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Met685Ile",
        "hgvsWellDefined": "NP_001191231.1:p.Met685Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2037,
          "referenceAllele": "G",
          "start": 2036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1887G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Met629Ile",
        "hgvsWellDefined": "NP_001191232.1:p.Met629Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2259,
          "referenceAllele": "G",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2109G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Met703Ile",
        "hgvsWellDefined": "NP_958816.1:p.Met703Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2091,
          "referenceAllele": "G",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1941G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Met647Ile",
        "hgvsWellDefined": "NP_958817.1:p.Met647Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2028,
          "referenceAllele": "G",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1836G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Met612Ile",
        "hgvsWellDefined": "NP_001129603.1:p.Met612Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2148,
          "referenceAllele": "G",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1998G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Met666Ile",
        "hgvsWellDefined": "NP_001372182.1:p.Met666Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}