{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409805613",
  "communityStandardTitle": [
    "NM_000484.4(APP):c.2113C>T (p.Leu705Phe)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.27264132G>A?assembly=hg19",
        "id": "chr21:g.27264132G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.25891820G>A?assembly=hg38",
        "id": "chr21:g.25891820G>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 25891820,
          "referenceAllele": "G",
          "start": 25891819
        }
      ],
      "hgvs": [
        "NC_000021.9:g.25891820G>A",
        "CM000683.2:g.25891820G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 27264132,
          "referenceAllele": "G",
          "start": 27264131
        }
      ],
      "hgvs": [
        "NC_000021.8:g.27264132G>A",
        "CM000683.1:g.27264132G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 26186003,
          "referenceAllele": "G",
          "start": 26186002
        }
      ],
      "hgvs": [
        "NC_000021.7:g.26186003G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284001,
          "referenceAllele": "C",
          "start": 284000
        }
      ],
      "hgvs": [
        "NG_007376.1:g.284001C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 284309,
          "referenceAllele": "C",
          "start": 284308
        }
      ],
      "hgvs": [
        "NG_007376.2:g.284309C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2080,
          "referenceAllele": "C",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707132.1:n.2080C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707133.1:n.510C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000707134.1:n.779C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2263,
          "referenceAllele": "C",
          "start": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.8:c.2113C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Leu705Phe",
        "hgvsWellDefined": "ENSP00000284981.4:p.Leu705Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2113C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2113C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Leu705Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Leu705Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2147,
          "referenceAllele": "C",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000346798.7:c.2113C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284981.4:p.Leu705Phe",
        "hgvsWellDefined": "ENSP00000284981.4:p.Leu705Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2035,
          "referenceAllele": "C",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000348990.9:c.1888C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345463.5:p.Leu630Phe",
        "hgvsWellDefined": "ENSP00000345463.5:p.Leu630Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1847,
          "referenceAllele": "C",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000354192.7:c.1720C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346129.3:p.Leu574Phe",
        "hgvsWellDefined": "ENSP00000346129.3:p.Leu574Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2223,
          "referenceAllele": "C",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000357903.7:c.2056C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350578.3:p.Leu686Phe",
        "hgvsWellDefined": "ENSP00000350578.3:p.Leu686Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2106,
          "referenceAllele": "C",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000358918.7:c.2059C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351796.3:p.Leu687Phe",
        "hgvsWellDefined": "ENSP00000351796.3:p.Leu687Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1975,
          "referenceAllele": "C",
          "start": 1974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000359726.7:c.1783C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352760.4:p.Leu595Phe",
        "hgvsWellDefined": "ENSP00000352760.4:p.Leu595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1979,
          "referenceAllele": "C",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000439274.6:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398879.2:p.Leu649Phe",
        "hgvsWellDefined": "ENSP00000398879.2:p.Leu649Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2307,
          "referenceAllele": "C",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000440126.7:c.2041C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387483.2:p.Leu681Phe",
        "hgvsWellDefined": "ENSP00000387483.2:p.Leu681Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "ENST00000464867.1:n.460C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308592"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579933804",
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "referenceAllele": "C",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.3:c.2113C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Leu705Phe",
        "hgvsWellDefined": "NP_000475.1:p.Leu705Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2237,
          "referenceAllele": "C",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136016.3:c.2041C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129488.1:p.Leu681Phe",
        "hgvsWellDefined": "NP_001129488.1:p.Leu681Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1920,
          "referenceAllele": "C",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.2:c.1720C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Leu574Phe",
        "hgvsWellDefined": "NP_001129601.1:p.Leu574Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2145,
          "referenceAllele": "C",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.2:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Leu649Phe",
        "hgvsWellDefined": "NP_001129602.1:p.Leu649Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1975,
          "referenceAllele": "C",
          "start": 1974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.2:c.1783C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Leu595Phe",
        "hgvsWellDefined": "NP_001129603.1:p.Leu595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2259,
          "referenceAllele": "C",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.1:c.2059C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Leu687Phe",
        "hgvsWellDefined": "NP_001191230.1:p.Leu687Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2202,
          "referenceAllele": "C",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.1:c.2002C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Leu668Phe",
        "hgvsWellDefined": "NP_001191231.1:p.Leu668Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2034,
          "referenceAllele": "C",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.1:c.1834C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Leu612Phe",
        "hgvsWellDefined": "NP_001191232.1:p.Leu612Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2256,
          "referenceAllele": "C",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.2:c.2056C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Leu686Phe",
        "hgvsWellDefined": "NP_958816.1:p.Leu686Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2088,
          "referenceAllele": "C",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.2:c.1888C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Leu630Phe",
        "hgvsWellDefined": "NP_958817.1:p.Leu630Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579933804",
      "coordinates": [
        {
          "allele": "T",
          "end": 2263,
          "referenceAllele": "C",
          "start": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_000484.4:c.2113C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000475.1:p.Leu705Phe",
        "hgvsWellDefined": "NP_000475.1:p.Leu705Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346798.8:c.2113C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000484.4:c.2113C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284981.4:p.Leu705Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000475.1:p.Leu705Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1870,
          "referenceAllele": "C",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136129.3:c.1720C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129601.1:p.Leu574Phe",
        "hgvsWellDefined": "NP_001129601.1:p.Leu574Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2095,
          "referenceAllele": "C",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136130.3:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129602.1:p.Leu649Phe",
        "hgvsWellDefined": "NP_001129602.1:p.Leu649Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204301.2:c.2059C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191230.1:p.Leu687Phe",
        "hgvsWellDefined": "NP_001191230.1:p.Leu687Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2152,
          "referenceAllele": "C",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204302.2:c.2002C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191231.1:p.Leu668Phe",
        "hgvsWellDefined": "NP_001191231.1:p.Leu668Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1984,
          "referenceAllele": "C",
          "start": 1983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001204303.2:c.1834C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191232.1:p.Leu612Phe",
        "hgvsWellDefined": "NP_001191232.1:p.Leu612Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2206,
          "referenceAllele": "C",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201413.3:c.2056C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958816.1:p.Leu686Phe",
        "hgvsWellDefined": "NP_958816.1:p.Leu686Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_201414.3:c.1888C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_958817.1:p.Leu630Phe",
        "hgvsWellDefined": "NP_958817.1:p.Leu630Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1975,
          "referenceAllele": "C",
          "start": 1974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001136131.3:c.1783C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129603.1:p.Leu595Phe",
        "hgvsWellDefined": "NP_001129603.1:p.Leu595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2095,
          "referenceAllele": "C",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000620",
      "geneNCBI_id": 351,
      "geneSymbol": "APP",
      "hgvs": [
        "NM_001385253.1:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372182.1:p.Leu649Phe",
        "hgvsWellDefined": "NP_001372182.1:p.Leu649Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723592"
    }
  ],
  "type": "nucleotide"
}