Canonical Allele Identifier: CA409806375

Gene: APP

Linked Data

• gnomAD v4: 21-25897610-C-G
• MyVariant Identifiers: chr21:g.27269922C>G (hg19) ; chr21:g.25897610C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897610C>G , CM000683.2:g.25897610C>G	GRCh38
NC_000021.8:g.27269922C>G , CM000683.1:g.27269922C>G	GRCh37
NC_000021.7:g.26191793C>G	NCBI36
NG_007376.1:g.278211G>C
NG_007376.2:g.278519G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.1994G>C
ENST00000707133.1:n.424G>C
ENST00000707134.1:n.693G>C
ENST00000346798.8:c.2027G>C MANE Select	ENSP00000284981.4:p.Arg676Pro
ENST00000346798.7:c.2027G>C	ENSP00000284981.4:p.Arg676Pro
ENST00000348990.9:c.1802G>C	ENSP00000345463.5:p.Arg601Pro
ENST00000354192.7:c.1634G>C	ENSP00000346129.3:p.Arg545Pro
ENST00000357903.7:c.1970G>C	ENSP00000350578.3:p.Arg657Pro
ENST00000358918.7:c.1973G>C	ENSP00000351796.3:p.Arg658Pro
ENST00000359726.7:c.1697G>C	ENSP00000352760.4:p.Arg566Pro
ENST00000439274.6:c.1859G>C	ENSP00000398879.2:p.Arg620Pro
ENST00000440126.7:c.1955G>C	ENSP00000387483.2:p.Arg652Pro
ENST00000464867.1:n.374G>C
NM_000484.3:c.2027G>C	NP_000475.1:p.Arg676Pro
NM_001136016.3:c.1955G>C	NP_001129488.1:p.Arg652Pro
NM_001136129.2:c.1634G>C	NP_001129601.1:p.Arg545Pro
NM_001136130.2:c.1859G>C	NP_001129602.1:p.Arg620Pro
NM_001136131.2:c.1697G>C	NP_001129603.1:p.Arg566Pro
NM_001204301.1:c.1973G>C	NP_001191230.1:p.Arg658Pro
NM_001204302.1:c.1916G>C	NP_001191231.1:p.Arg639Pro
NM_001204303.1:c.1748G>C	NP_001191232.1:p.Arg583Pro
NM_201413.2:c.1970G>C	NP_958816.1:p.Arg657Pro
NM_201414.2:c.1802G>C	NP_958817.1:p.Arg601Pro
NM_000484.4:c.2027G>C MANE Select	NP_000475.1:p.Arg676Pro
NM_001136129.3:c.1634G>C	NP_001129601.1:p.Arg545Pro
NM_001136130.3:c.1859G>C	NP_001129602.1:p.Arg620Pro
NM_001204301.2:c.1973G>C	NP_001191230.1:p.Arg658Pro
NM_001204302.2:c.1916G>C	NP_001191231.1:p.Arg639Pro
NM_001204303.2:c.1748G>C	NP_001191232.1:p.Arg583Pro
NM_201413.3:c.1970G>C	NP_958816.1:p.Arg657Pro
NM_201414.3:c.1802G>C	NP_958817.1:p.Arg601Pro
NM_001136131.3:c.1697G>C	NP_001129603.1:p.Arg566Pro
NM_001385253.1:c.1859G>C	NP_001372182.1:p.Arg620Pro