Canonical Allele Identifier: CA409806302

Gene: APP

Linked Data

• gnomAD v4: 21-25897592-T-G
• MyVariant Identifiers: chr21:g.27269904T>G (hg19) ; chr21:g.25897592T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897592T>G , CM000683.2:g.25897592T>G	GRCh38
NC_000021.8:g.27269904T>G , CM000683.1:g.27269904T>G	GRCh37
NC_000021.7:g.26191775T>G	NCBI36
NG_007376.1:g.278229A>C
NG_007376.2:g.278537A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2012A>C
ENST00000707133.1:n.442A>C
ENST00000707134.1:n.711A>C
ENST00000346798.8:c.2045A>C MANE Select	ENSP00000284981.4:p.Glu682Ala
ENST00000346798.7:c.2045A>C	ENSP00000284981.4:p.Glu682Ala
ENST00000348990.9:c.1820A>C	ENSP00000345463.5:p.Glu607Ala
ENST00000354192.7:c.1652A>C	ENSP00000346129.3:p.Glu551Ala
ENST00000357903.7:c.1988A>C	ENSP00000350578.3:p.Glu663Ala
ENST00000358918.7:c.1991A>C	ENSP00000351796.3:p.Glu664Ala
ENST00000359726.7:c.1715A>C	ENSP00000352760.4:p.Glu572Ala
ENST00000439274.6:c.1877A>C	ENSP00000398879.2:p.Glu626Ala
ENST00000440126.7:c.1973A>C	ENSP00000387483.2:p.Glu658Ala
ENST00000464867.1:n.392A>C
NM_000484.3:c.2045A>C	NP_000475.1:p.Glu682Ala
NM_001136016.3:c.1973A>C	NP_001129488.1:p.Glu658Ala
NM_001136129.2:c.1652A>C	NP_001129601.1:p.Glu551Ala
NM_001136130.2:c.1877A>C	NP_001129602.1:p.Glu626Ala
NM_001136131.2:c.1715A>C	NP_001129603.1:p.Glu572Ala
NM_001204301.1:c.1991A>C	NP_001191230.1:p.Glu664Ala
NM_001204302.1:c.1934A>C	NP_001191231.1:p.Glu645Ala
NM_001204303.1:c.1766A>C	NP_001191232.1:p.Glu589Ala
NM_201413.2:c.1988A>C	NP_958816.1:p.Glu663Ala
NM_201414.2:c.1820A>C	NP_958817.1:p.Glu607Ala
NM_000484.4:c.2045A>C MANE Select	NP_000475.1:p.Glu682Ala
NM_001136129.3:c.1652A>C	NP_001129601.1:p.Glu551Ala
NM_001136130.3:c.1877A>C	NP_001129602.1:p.Glu626Ala
NM_001204301.2:c.1991A>C	NP_001191230.1:p.Glu664Ala
NM_001204302.2:c.1934A>C	NP_001191231.1:p.Glu645Ala
NM_001204303.2:c.1766A>C	NP_001191232.1:p.Glu589Ala
NM_201413.3:c.1988A>C	NP_958816.1:p.Glu663Ala
NM_201414.3:c.1820A>C	NP_958817.1:p.Glu607Ala
NM_001136131.3:c.1715A>C	NP_001129603.1:p.Glu572Ala
NM_001385253.1:c.1877A>C	NP_001372182.1:p.Glu626Ala