Canonical Allele Identifier: CA409805687

Gene: APP

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891855T>A , CM000683.2:g.25891855T>A	GRCh38
NC_000021.8:g.27264167T>A , CM000683.1:g.27264167T>A	GRCh37
NC_000021.7:g.26186038T>A	NCBI36
NG_007376.1:g.283966A>T
NG_007376.2:g.284274A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000484.4:c.2078A>T MANE Select	NP_000475.1:p.Glu693Val
ENST00000346798.8:c.2078A>T MANE Select	ENSP00000284981.4:p.Glu693Val
NM_000484.3:c.2078A>T	NP_000475.1:p.Glu693Val
NM_001136016.3:c.2006A>T	NP_001129488.1:p.Glu669Val
NM_001136129.2:c.1685A>T	NP_001129601.1:p.Glu562Val
NM_001136129.3:c.1685A>T	NP_001129601.1:p.Glu562Val
NM_001136130.2:c.1910A>T	NP_001129602.1:p.Glu637Val
NM_001136130.3:c.1910A>T	NP_001129602.1:p.Glu637Val
NM_001136131.2:c.1748A>T	NP_001129603.1:p.Glu583Val
NM_001136131.3:c.1748A>T	NP_001129603.1:p.Glu583Val
NM_001204301.1:c.2024A>T	NP_001191230.1:p.Glu675Val
NM_001204301.2:c.2024A>T	NP_001191230.1:p.Glu675Val
NM_001204302.1:c.1967A>T	NP_001191231.1:p.Glu656Val
NM_001204302.2:c.1967A>T	NP_001191231.1:p.Glu656Val
NM_001204303.1:c.1799A>T	NP_001191232.1:p.Glu600Val
NM_001204303.2:c.1799A>T	NP_001191232.1:p.Glu600Val
NM_001385253.1:c.1910A>T	NP_001372182.1:p.Glu637Val
NM_201413.2:c.2021A>T	NP_958816.1:p.Glu674Val
NM_201413.3:c.2021A>T	NP_958816.1:p.Glu674Val
NM_201414.2:c.1853A>T	NP_958817.1:p.Glu618Val
NM_201414.3:c.1853A>T	NP_958817.1:p.Glu618Val
ENST00000346798.7:c.2078A>T	ENSP00000284981.4:p.Glu693Val
ENST00000348990.9:c.1853A>T	ENSP00000345463.5:p.Glu618Val
ENST00000354192.7:c.1685A>T	ENSP00000346129.3:p.Glu562Val
ENST00000357903.7:c.2021A>T	ENSP00000350578.3:p.Glu674Val
ENST00000358918.7:c.2024A>T	ENSP00000351796.3:p.Glu675Val
ENST00000359726.7:c.1748A>T	ENSP00000352760.4:p.Glu583Val
ENST00000439274.6:c.1910A>T	ENSP00000398879.2:p.Glu637Val
ENST00000440126.7:c.2006A>T	ENSP00000387483.2:p.Glu669Val
ENST00000464867.1:n.425A>T
ENST00000707132.1:n.2045A>T
ENST00000707133.1:n.475A>T
ENST00000707134.1:n.744A>T