Canonical Allele Identifier: CA409805713
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891868C>A , CM000683.2:g.25891868C>A GRCh38
NC_000021.8:g.27264180C>A , CM000683.1:g.27264180C>A GRCh37
NC_000021.7:g.26186051C>A NCBI36
NG_007376.1:g.283953G>T
NG_007376.2:g.284261G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2032G>T
ENST00000707133.1:n.462G>T
ENST00000707134.1:n.731G>T
ENST00000346798.8:c.2065G>T MANE Select ENSP00000284981.4:p.Val689Leu
ENST00000346798.7:c.2065G>T ENSP00000284981.4:p.Val689Leu
ENST00000348990.9:c.1840G>T ENSP00000345463.5:p.Val614Leu
ENST00000354192.7:c.1672G>T ENSP00000346129.3:p.Val558Leu
ENST00000357903.7:c.2008G>T ENSP00000350578.3:p.Val670Leu
ENST00000358918.7:c.2011G>T ENSP00000351796.3:p.Val671Leu
ENST00000359726.7:c.1735G>T ENSP00000352760.4:p.Val579Leu
ENST00000439274.6:c.1897G>T ENSP00000398879.2:p.Val633Leu
ENST00000440126.7:c.1993G>T ENSP00000387483.2:p.Val665Leu
ENST00000464867.1:n.412G>T
NM_000484.3:c.2065G>T NP_000475.1:p.Val689Leu
NM_001136016.3:c.1993G>T NP_001129488.1:p.Val665Leu
NM_001136129.2:c.1672G>T NP_001129601.1:p.Val558Leu
NM_001136130.2:c.1897G>T NP_001129602.1:p.Val633Leu
NM_001136131.2:c.1735G>T NP_001129603.1:p.Val579Leu
NM_001204301.1:c.2011G>T NP_001191230.1:p.Val671Leu
NM_001204302.1:c.1954G>T NP_001191231.1:p.Val652Leu
NM_001204303.1:c.1786G>T NP_001191232.1:p.Val596Leu
NM_201413.2:c.2008G>T NP_958816.1:p.Val670Leu
NM_201414.2:c.1840G>T NP_958817.1:p.Val614Leu
NM_000484.4:c.2065G>T MANE Select NP_000475.1:p.Val689Leu
NM_001136129.3:c.1672G>T NP_001129601.1:p.Val558Leu
NM_001136130.3:c.1897G>T NP_001129602.1:p.Val633Leu
NM_001204301.2:c.2011G>T NP_001191230.1:p.Val671Leu
NM_001204302.2:c.1954G>T NP_001191231.1:p.Val652Leu
NM_001204303.2:c.1786G>T NP_001191232.1:p.Val596Leu
NM_201413.3:c.2008G>T NP_958816.1:p.Val670Leu
NM_201414.3:c.1840G>T NP_958817.1:p.Val614Leu
NM_001136131.3:c.1735G>T NP_001129603.1:p.Val579Leu
NM_001385253.1:c.1897G>T NP_001372182.1:p.Val633Leu