Canonical Allele Identifier: CA409805610

Gene: APP

Linked Data

• MyVariant Identifiers: chr21:g.27264131A>C (hg19) ; chr21:g.25891819A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891819A>C , CM000683.2:g.25891819A>C	GRCh38
NC_000021.8:g.27264131A>C , CM000683.1:g.27264131A>C	GRCh37
NC_000021.7:g.26186002A>C	NCBI36
NG_007376.1:g.284002T>G
NG_007376.2:g.284310T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2081T>G
ENST00000707133.1:n.511T>G
ENST00000707134.1:n.780T>G
ENST00000346798.8:c.2114T>G MANE Select	ENSP00000284981.4:p.Leu705Arg
ENST00000346798.7:c.2114T>G	ENSP00000284981.4:p.Leu705Arg
ENST00000348990.9:c.1889T>G	ENSP00000345463.5:p.Leu630Arg
ENST00000354192.7:c.1721T>G	ENSP00000346129.3:p.Leu574Arg
ENST00000357903.7:c.2057T>G	ENSP00000350578.3:p.Leu686Arg
ENST00000358918.7:c.2060T>G	ENSP00000351796.3:p.Leu687Arg
ENST00000359726.7:c.1784T>G	ENSP00000352760.4:p.Leu595Arg
ENST00000439274.6:c.1946T>G	ENSP00000398879.2:p.Leu649Arg
ENST00000440126.7:c.2042T>G	ENSP00000387483.2:p.Leu681Arg
ENST00000464867.1:n.461T>G
NM_000484.3:c.2114T>G	NP_000475.1:p.Leu705Arg
NM_001136016.3:c.2042T>G	NP_001129488.1:p.Leu681Arg
NM_001136129.2:c.1721T>G	NP_001129601.1:p.Leu574Arg
NM_001136130.2:c.1946T>G	NP_001129602.1:p.Leu649Arg
NM_001136131.2:c.1784T>G	NP_001129603.1:p.Leu595Arg
NM_001204301.1:c.2060T>G	NP_001191230.1:p.Leu687Arg
NM_001204302.1:c.2003T>G	NP_001191231.1:p.Leu668Arg
NM_001204303.1:c.1835T>G	NP_001191232.1:p.Leu612Arg
NM_201413.2:c.2057T>G	NP_958816.1:p.Leu686Arg
NM_201414.2:c.1889T>G	NP_958817.1:p.Leu630Arg
NM_000484.4:c.2114T>G MANE Select	NP_000475.1:p.Leu705Arg
NM_001136129.3:c.1721T>G	NP_001129601.1:p.Leu574Arg
NM_001136130.3:c.1946T>G	NP_001129602.1:p.Leu649Arg
NM_001204301.2:c.2060T>G	NP_001191230.1:p.Leu687Arg
NM_001204302.2:c.2003T>G	NP_001191231.1:p.Leu668Arg
NM_001204303.2:c.1835T>G	NP_001191232.1:p.Leu612Arg
NM_201413.3:c.2057T>G	NP_958816.1:p.Leu686Arg
NM_201414.3:c.1889T>G	NP_958817.1:p.Leu630Arg
NM_001136131.3:c.1784T>G	NP_001129603.1:p.Leu595Arg
NM_001385253.1:c.1946T>G	NP_001372182.1:p.Leu649Arg