Canonical Allele Identifier: CA225509

Gene: APP

Linked Data

• ClinVar Variation Id: 98239
• ClinVar RCV Id: RCV000084572
• dbSNP Id: rs63750627
• MyVariant Identifiers: chr21:g.27264100C>T (hg19) ; chr21:g.25891788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891788C>T , CM000683.2:g.25891788C>T	GRCh38
NC_000021.8:g.27264100C>T , CM000683.1:g.27264100C>T	GRCh37
NC_000021.7:g.26185971C>T	NCBI36
NG_007376.1:g.284033G>A
NG_007376.2:g.284341G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2112G>A
ENST00000707133.1:n.542G>A
ENST00000707134.1:n.811G>A
ENST00000346798.8:c.2145G>A MANE Select	ENSP00000284981.4:p.Val715=
ENST00000346798.7:c.2145G>A	ENSP00000284981.4:p.Val715=
ENST00000348990.9:c.1920G>A	ENSP00000345463.5:p.Val640=
ENST00000354192.7:c.1752G>A	ENSP00000346129.3:p.Val584=
ENST00000357903.7:c.2088G>A	ENSP00000350578.3:p.Val696=
ENST00000358918.7:c.2091G>A	ENSP00000351796.3:p.Val697=
ENST00000359726.7:c.1815G>A	ENSP00000352760.4:p.Val605=
ENST00000439274.6:c.1977G>A	ENSP00000398879.2:p.Val659=
ENST00000440126.7:c.2073G>A	ENSP00000387483.2:p.Val691=
ENST00000464867.1:n.492G>A
NM_000484.3:c.2145G>A	NP_000475.1:p.Val715=
NM_001136016.3:c.2073G>A	NP_001129488.1:p.Val691=
NM_001136129.2:c.1752G>A	NP_001129601.1:p.Val584=
NM_001136130.2:c.1977G>A	NP_001129602.1:p.Val659=
NM_001136131.2:c.1815G>A	NP_001129603.1:p.Val605=
NM_001204301.1:c.2091G>A	NP_001191230.1:p.Val697=
NM_001204302.1:c.2034G>A	NP_001191231.1:p.Val678=
NM_001204303.1:c.1866G>A	NP_001191232.1:p.Val622=
NM_201413.2:c.2088G>A	NP_958816.1:p.Val696=
NM_201414.2:c.1920G>A	NP_958817.1:p.Val640=
NM_000484.4:c.2145G>A MANE Select	NP_000475.1:p.Val715=
NM_001136129.3:c.1752G>A	NP_001129601.1:p.Val584=
NM_001136130.3:c.1977G>A	NP_001129602.1:p.Val659=
NM_001204301.2:c.2091G>A	NP_001191230.1:p.Val697=
NM_001204302.2:c.2034G>A	NP_001191231.1:p.Val678=
NM_001204303.2:c.1866G>A	NP_001191232.1:p.Val622=
NM_201413.3:c.2088G>A	NP_958816.1:p.Val696=
NM_201414.3:c.1920G>A	NP_958817.1:p.Val640=
NM_001136131.3:c.1815G>A	NP_001129603.1:p.Val605=
NM_001385253.1:c.1977G>A	NP_001372182.1:p.Val659=