Canonical Allele Identifier: CA409805490

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264068T>A (hg19) ; chr21:g.25891756T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891756T>A , CM000683.2:g.25891756T>A	GRCh38
NC_000021.8:g.27264068T>A , CM000683.1:g.27264068T>A	GRCh37
NC_000021.7:g.26185939T>A	NCBI36
NG_007376.1:g.284065A>T
NG_007376.2:g.284373A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2144A>T
ENST00000707133.1:n.574A>T
ENST00000707134.1:n.843A>T
ENST00000346798.8:c.2177A>T MANE Select	ENSP00000284981.4:p.Lys726Ile
ENST00000346798.7:c.2177A>T	ENSP00000284981.4:p.Lys726Ile
ENST00000348990.9:c.1952A>T	ENSP00000345463.5:p.Lys651Ile
ENST00000354192.7:c.1784A>T	ENSP00000346129.3:p.Lys595Ile
ENST00000357903.7:c.2120A>T	ENSP00000350578.3:p.Lys707Ile
ENST00000358918.7:c.2123A>T	ENSP00000351796.3:p.Lys708Ile
ENST00000359726.7:c.1847A>T	ENSP00000352760.4:p.Lys616Ile
ENST00000439274.6:c.2009A>T	ENSP00000398879.2:p.Lys670Ile
ENST00000440126.7:c.2105A>T	ENSP00000387483.2:p.Lys702Ile
ENST00000464867.1:n.524A>T
NM_000484.3:c.2177A>T	NP_000475.1:p.Lys726Ile
NM_001136016.3:c.2105A>T	NP_001129488.1:p.Lys702Ile
NM_001136129.2:c.1784A>T	NP_001129601.1:p.Lys595Ile
NM_001136130.2:c.2009A>T	NP_001129602.1:p.Lys670Ile
NM_001136131.2:c.1847A>T	NP_001129603.1:p.Lys616Ile
NM_001204301.1:c.2123A>T	NP_001191230.1:p.Lys708Ile
NM_001204302.1:c.2066A>T	NP_001191231.1:p.Lys689Ile
NM_001204303.1:c.1898A>T	NP_001191232.1:p.Lys633Ile
NM_201413.2:c.2120A>T	NP_958816.1:p.Lys707Ile
NM_201414.2:c.1952A>T	NP_958817.1:p.Lys651Ile
NM_000484.4:c.2177A>T MANE Select	NP_000475.1:p.Lys726Ile
NM_001136129.3:c.1784A>T	NP_001129601.1:p.Lys595Ile
NM_001136130.3:c.2009A>T	NP_001129602.1:p.Lys670Ile
NM_001204301.2:c.2123A>T	NP_001191230.1:p.Lys708Ile
NM_001204302.2:c.2066A>T	NP_001191231.1:p.Lys689Ile
NM_001204303.2:c.1898A>T	NP_001191232.1:p.Lys633Ile
NM_201413.3:c.2120A>T	NP_958816.1:p.Lys707Ile
NM_201414.3:c.1952A>T	NP_958817.1:p.Lys651Ile
NM_001136131.3:c.1847A>T	NP_001129603.1:p.Lys616Ile
NM_001385253.1:c.2009A>T	NP_001372182.1:p.Lys670Ile