Canonical Allele Identifier: CA319097494

Gene: APP

Linked Data

• dbSNP Id: rs200499263
• MyVariant Identifiers: chr21:g.27263987T>A (hg19) ; chr21:g.25891675T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891675T>A , CM000683.2:g.25891675T>A	GRCh38
NC_000021.8:g.27263987T>A , CM000683.1:g.27263987T>A	GRCh37
NC_000021.7:g.26185858T>A	NCBI36
NG_007376.1:g.284146A>T
NG_007376.2:g.284454A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.2178+47A>T
ENST00000707133.1:n.608+47A>T
ENST00000707134.1:n.877+47A>T
ENST00000346798.8:c.2211+47A>T MANE Select	ENSP00000284981.4:n.2211+47A>T
ENST00000346798.7:c.2211+47A>T	ENSP00000284981.4:n.2211+47A>T
ENST00000348990.9:c.1986+47A>T	ENSP00000345463.5:n.1986+47A>T
ENST00000354192.7:c.1818+47A>T	ENSP00000346129.3:n.1818+47A>T
ENST00000357903.7:c.2154+47A>T	ENSP00000350578.3:n.2154+47A>T
ENST00000358918.7:c.2157+47A>T	ENSP00000351796.3:n.2157+47A>T
ENST00000359726.7:c.1881+47A>T	ENSP00000352760.4:n.1881+47A>T
ENST00000439274.6:c.2043+47A>T	ENSP00000398879.2:n.2043+47A>T
ENST00000440126.7:c.2139+47A>T	ENSP00000387483.2:n.2139+47A>T
ENST00000464867.1:n.558+47A>T
NM_000484.3:c.2211+47A>T	NP_000475.1:n.2211+47A>T
NM_001136016.3:c.2139+47A>T	NP_001129488.1:n.2139+47A>T
NM_001136129.2:c.1818+47A>T	NP_001129601.1:n.1818+47A>T
NM_001136130.2:c.2043+47A>T	NP_001129602.1:n.2043+47A>T
NM_001136131.2:c.1881+47A>T	NP_001129603.1:n.1881+47A>T
NM_001204301.1:c.2157+47A>T	NP_001191230.1:n.2157+47A>T
NM_001204302.1:c.2100+47A>T	NP_001191231.1:n.2100+47A>T
NM_001204303.1:c.1932+47A>T	NP_001191232.1:n.1932+47A>T
NM_201413.2:c.2154+47A>T	NP_958816.1:n.2154+47A>T
NM_201414.2:c.1986+47A>T	NP_958817.1:n.1986+47A>T
NM_000484.4:c.2211+47A>T MANE Select	NP_000475.1:n.2211+47A>T
NM_001136129.3:c.1818+47A>T	NP_001129601.1:n.1818+47A>T
NM_001136130.3:c.2043+47A>T	NP_001129602.1:n.2043+47A>T
NM_001204301.2:c.2157+47A>T	NP_001191230.1:n.2157+47A>T
NM_001204302.2:c.2100+47A>T	NP_001191231.1:n.2100+47A>T
NM_001204303.2:c.1932+47A>T	NP_001191232.1:n.1932+47A>T
NM_201413.3:c.2154+47A>T	NP_958816.1:n.2154+47A>T
NM_201414.3:c.1986+47A>T	NP_958817.1:n.1986+47A>T
NM_001136131.3:c.1881+47A>T	NP_001129603.1:n.1881+47A>T
NM_001385253.1:c.2043+47A>T	NP_001372182.1:n.2043+47A>T