Canonical Allele Identifier: CA409805618

Gene: APP

Linked Data

• COSMIC: COSM3549993
• MyVariant Identifiers: chr21:g.27264135C>T (hg19) ; chr21:g.25891823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891823C>T , CM000683.2:g.25891823C>T	GRCh38
NC_000021.8:g.27264135C>T , CM000683.1:g.27264135C>T	GRCh37
NC_000021.7:g.26186006C>T	NCBI36
NG_007376.1:g.283998G>A
NG_007376.2:g.284306G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2077G>A
ENST00000707133.1:n.507G>A
ENST00000707134.1:n.776G>A
ENST00000346798.8:c.2110G>A MANE Select	ENSP00000284981.4:p.Gly704Arg
ENST00000346798.7:c.2110G>A	ENSP00000284981.4:p.Gly704Arg
ENST00000348990.9:c.1885G>A	ENSP00000345463.5:p.Gly629Arg
ENST00000354192.7:c.1717G>A	ENSP00000346129.3:p.Gly573Arg
ENST00000357903.7:c.2053G>A	ENSP00000350578.3:p.Gly685Arg
ENST00000358918.7:c.2056G>A	ENSP00000351796.3:p.Gly686Arg
ENST00000359726.7:c.1780G>A	ENSP00000352760.4:p.Gly594Arg
ENST00000439274.6:c.1942G>A	ENSP00000398879.2:p.Gly648Arg
ENST00000440126.7:c.2038G>A	ENSP00000387483.2:p.Gly680Arg
ENST00000464867.1:n.457G>A
NM_000484.3:c.2110G>A	NP_000475.1:p.Gly704Arg
NM_001136016.3:c.2038G>A	NP_001129488.1:p.Gly680Arg
NM_001136129.2:c.1717G>A	NP_001129601.1:p.Gly573Arg
NM_001136130.2:c.1942G>A	NP_001129602.1:p.Gly648Arg
NM_001136131.2:c.1780G>A	NP_001129603.1:p.Gly594Arg
NM_001204301.1:c.2056G>A	NP_001191230.1:p.Gly686Arg
NM_001204302.1:c.1999G>A	NP_001191231.1:p.Gly667Arg
NM_001204303.1:c.1831G>A	NP_001191232.1:p.Gly611Arg
NM_201413.2:c.2053G>A	NP_958816.1:p.Gly685Arg
NM_201414.2:c.1885G>A	NP_958817.1:p.Gly629Arg
NM_000484.4:c.2110G>A MANE Select	NP_000475.1:p.Gly704Arg
NM_001136129.3:c.1717G>A	NP_001129601.1:p.Gly573Arg
NM_001136130.3:c.1942G>A	NP_001129602.1:p.Gly648Arg
NM_001204301.2:c.2056G>A	NP_001191230.1:p.Gly686Arg
NM_001204302.2:c.1999G>A	NP_001191231.1:p.Gly667Arg
NM_001204303.2:c.1831G>A	NP_001191232.1:p.Gly611Arg
NM_201413.3:c.2053G>A	NP_958816.1:p.Gly685Arg
NM_201414.3:c.1885G>A	NP_958817.1:p.Gly629Arg
NM_001136131.3:c.1780G>A	NP_001129603.1:p.Gly594Arg
NM_001385253.1:c.1942G>A	NP_001372182.1:p.Gly648Arg