Canonical Allele Identifier: CA511686049
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264169T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891857T>G , CM000683.2:g.25891857T>G GRCh38
NC_000021.8:g.27264169T>G , CM000683.1:g.27264169T>G GRCh37
NC_000021.7:g.26186040T>G NCBI36
NG_007376.1:g.283964A>C
NG_007376.2:g.284272A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2076A>C MANE Select ENSP00000284981.4:p.Ala692=
ENST00000346798.7:c.2076A>C ENSP00000284981.4:p.Ala692=
ENST00000348990.9:c.1851A>C ENSP00000345463.5:p.Ala617=
ENST00000354192.7:c.1683A>C ENSP00000346129.3:p.Ala561=
ENST00000357903.7:c.2019A>C ENSP00000350578.3:p.Ala673=
ENST00000358918.7:c.2022A>C ENSP00000351796.3:p.Ala674=
ENST00000359726.7:c.1746A>C ENSP00000352760.4:p.Ala582=
ENST00000439274.6:c.1908A>C ENSP00000398879.2:p.Ala636=
ENST00000440126.7:c.2004A>C ENSP00000387483.2:p.Ala668=
NM_000484.3:c.2076A>C NP_000475.1:p.Ala692=
NM_001136016.3:c.2004A>C NP_001129488.1:p.Ala668=
NM_001136129.2:c.1683A>C NP_001129601.1:p.Ala561=
NM_001136130.2:c.1908A>C NP_001129602.1:p.Ala636=
NM_001136131.2:c.1746A>C NP_001129603.1:p.Ala582=
NM_001204301.1:c.2022A>C NP_001191230.1:p.Ala674=
NM_001204302.1:c.1965A>C NP_001191231.1:p.Ala655=
NM_001204303.1:c.1797A>C NP_001191232.1:p.Ala599=
NM_201413.2:c.2019A>C NP_958816.1:p.Ala673=
NM_201414.2:c.1851A>C NP_958817.1:p.Ala617=
NM_000484.4:c.2076A>C MANE Select NP_000475.1:p.Ala692=
NM_001136129.3:c.1683A>C NP_001129601.1:p.Ala561=
NM_001136130.3:c.1908A>C NP_001129602.1:p.Ala636=
NM_001204301.2:c.2022A>C NP_001191230.1:p.Ala674=
NM_001204302.2:c.1965A>C NP_001191231.1:p.Ala655=
NM_001204303.2:c.1797A>C NP_001191232.1:p.Ala599=
NM_201413.3:c.2019A>C NP_958816.1:p.Ala673=
NM_201414.3:c.1851A>C NP_958817.1:p.Ala617=
NM_001136131.3:c.1746A>C NP_001129603.1:p.Ala582=
NM_001385253.1:c.1908A>C NP_001372182.1:p.Ala636=