Canonical Allele Identifier: CA511686046
Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 745507
ClinVar RCV Id: RCV001496691
dbSNP Id: rs768446605
MyVariant Identifiers: chr21:g.27264166T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891854T>C , CM000683.2:g.25891854T>C GRCh38
NC_000021.8:g.27264166T>C , CM000683.1:g.27264166T>C GRCh37
NC_000021.7:g.26186037T>C NCBI36
NG_007376.1:g.283967A>G
NG_007376.2:g.284275A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2046A>G
ENST00000707133.1:n.476A>G
ENST00000707134.1:n.745A>G
ENST00000346798.8:c.2079A>G MANE Select ENSP00000284981.4:p.Glu693=
ENST00000346798.7:c.2079A>G ENSP00000284981.4:p.Glu693=
ENST00000348990.9:c.1854A>G ENSP00000345463.5:p.Glu618=
ENST00000354192.7:c.1686A>G ENSP00000346129.3:p.Glu562=
ENST00000357903.7:c.2022A>G ENSP00000350578.3:p.Glu674=
ENST00000358918.7:c.2025A>G ENSP00000351796.3:p.Glu675=
ENST00000359726.7:c.1749A>G ENSP00000352760.4:p.Glu583=
ENST00000439274.6:c.1911A>G ENSP00000398879.2:p.Glu637=
ENST00000440126.7:c.2007A>G ENSP00000387483.2:p.Glu669=
ENST00000464867.1:n.426A>G
NM_000484.3:c.2079A>G NP_000475.1:p.Glu693=
NM_001136016.3:c.2007A>G NP_001129488.1:p.Glu669=
NM_001136129.2:c.1686A>G NP_001129601.1:p.Glu562=
NM_001136130.2:c.1911A>G NP_001129602.1:p.Glu637=
NM_001136131.2:c.1749A>G NP_001129603.1:p.Glu583=
NM_001204301.1:c.2025A>G NP_001191230.1:p.Glu675=
NM_001204302.1:c.1968A>G NP_001191231.1:p.Glu656=
NM_001204303.1:c.1800A>G NP_001191232.1:p.Glu600=
NM_201413.2:c.2022A>G NP_958816.1:p.Glu674=
NM_201414.2:c.1854A>G NP_958817.1:p.Glu618=
NM_000484.4:c.2079A>G MANE Select NP_000475.1:p.Glu693=
NM_001136129.3:c.1686A>G NP_001129601.1:p.Glu562=
NM_001136130.3:c.1911A>G NP_001129602.1:p.Glu637=
NM_001204301.2:c.2025A>G NP_001191230.1:p.Glu675=
NM_001204302.2:c.1968A>G NP_001191231.1:p.Glu656=
NM_001204303.2:c.1800A>G NP_001191232.1:p.Glu600=
NM_201413.3:c.2022A>G NP_958816.1:p.Glu674=
NM_201414.3:c.1854A>G NP_958817.1:p.Glu618=
NM_001136131.3:c.1749A>G NP_001129603.1:p.Glu583=
NM_001385253.1:c.1911A>G NP_001372182.1:p.Glu637=