Canonical Allele Identifier: CA409805612

Gene: APP

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891819A>T , CM000683.2:g.25891819A>T	GRCh38
NC_000021.8:g.27264131A>T , CM000683.1:g.27264131A>T	GRCh37
NC_000021.7:g.26186002A>T	NCBI36
NG_007376.1:g.284002T>A
NG_007376.2:g.284310T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000484.4:c.2114T>A MANE Select	NP_000475.1:p.Leu705His
ENST00000346798.8:c.2114T>A MANE Select	ENSP00000284981.4:p.Leu705His
NM_000484.3:c.2114T>A	NP_000475.1:p.Leu705His
NM_001136016.3:c.2042T>A	NP_001129488.1:p.Leu681His
NM_001136129.2:c.1721T>A	NP_001129601.1:p.Leu574His
NM_001136129.3:c.1721T>A	NP_001129601.1:p.Leu574His
NM_001136130.2:c.1946T>A	NP_001129602.1:p.Leu649His
NM_001136130.3:c.1946T>A	NP_001129602.1:p.Leu649His
NM_001136131.2:c.1784T>A	NP_001129603.1:p.Leu595His
NM_001136131.3:c.1784T>A	NP_001129603.1:p.Leu595His
NM_001204301.1:c.2060T>A	NP_001191230.1:p.Leu687His
NM_001204301.2:c.2060T>A	NP_001191230.1:p.Leu687His
NM_001204302.1:c.2003T>A	NP_001191231.1:p.Leu668His
NM_001204302.2:c.2003T>A	NP_001191231.1:p.Leu668His
NM_001204303.1:c.1835T>A	NP_001191232.1:p.Leu612His
NM_001204303.2:c.1835T>A	NP_001191232.1:p.Leu612His
NM_001385253.1:c.1946T>A	NP_001372182.1:p.Leu649His
NM_201413.2:c.2057T>A	NP_958816.1:p.Leu686His
NM_201413.3:c.2057T>A	NP_958816.1:p.Leu686His
NM_201414.2:c.1889T>A	NP_958817.1:p.Leu630His
NM_201414.3:c.1889T>A	NP_958817.1:p.Leu630His
ENST00000346798.7:c.2114T>A	ENSP00000284981.4:p.Leu705His
ENST00000348990.9:c.1889T>A	ENSP00000345463.5:p.Leu630His
ENST00000354192.7:c.1721T>A	ENSP00000346129.3:p.Leu574His
ENST00000357903.7:c.2057T>A	ENSP00000350578.3:p.Leu686His
ENST00000358918.7:c.2060T>A	ENSP00000351796.3:p.Leu687His
ENST00000359726.7:c.1784T>A	ENSP00000352760.4:p.Leu595His
ENST00000439274.6:c.1946T>A	ENSP00000398879.2:p.Leu649His
ENST00000440126.7:c.2042T>A	ENSP00000387483.2:p.Leu681His
ENST00000464867.1:n.461T>A
ENST00000707132.1:n.2081T>A
ENST00000707133.1:n.511T>A
ENST00000707134.1:n.780T>A