Canonical Allele Identifier: CA9987054

Gene: APP

Linked Data

• dbSNP Id: rs544705359
• ExAC: 21:27264119 C / A
• gnomAD v2: 21-27264119-C-A
• gnomAD v3: 21-25891807-C-A
• gnomAD v4: 21-25891807-C-A
• MyVariant Identifiers: chr21:g.27264119C>A (hg19) ; chr21:g.25891807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891807C>A , CM000683.2:g.25891807C>A	GRCh38
NC_000021.8:g.27264119C>A , CM000683.1:g.27264119C>A	GRCh37
NC_000021.7:g.26185990C>A	NCBI36
NG_007376.1:g.284014G>T
NG_007376.2:g.284322G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2093G>T
ENST00000707133.1:n.523G>T
ENST00000707134.1:n.792G>T
ENST00000346798.8:c.2126G>T MANE Select	ENSP00000284981.4:p.Gly709Val
ENST00000346798.7:c.2126G>T	ENSP00000284981.4:p.Gly709Val
ENST00000348990.9:c.1901G>T	ENSP00000345463.5:p.Gly634Val
ENST00000354192.7:c.1733G>T	ENSP00000346129.3:p.Gly578Val
ENST00000357903.7:c.2069G>T	ENSP00000350578.3:p.Gly690Val
ENST00000358918.7:c.2072G>T	ENSP00000351796.3:p.Gly691Val
ENST00000359726.7:c.1796G>T	ENSP00000352760.4:p.Gly599Val
ENST00000439274.6:c.1958G>T	ENSP00000398879.2:p.Gly653Val
ENST00000440126.7:c.2054G>T	ENSP00000387483.2:p.Gly685Val
ENST00000464867.1:n.473G>T
NM_000484.3:c.2126G>T	NP_000475.1:p.Gly709Val
NM_001136016.3:c.2054G>T	NP_001129488.1:p.Gly685Val
NM_001136129.2:c.1733G>T	NP_001129601.1:p.Gly578Val
NM_001136130.2:c.1958G>T	NP_001129602.1:p.Gly653Val
NM_001136131.2:c.1796G>T	NP_001129603.1:p.Gly599Val
NM_001204301.1:c.2072G>T	NP_001191230.1:p.Gly691Val
NM_001204302.1:c.2015G>T	NP_001191231.1:p.Gly672Val
NM_001204303.1:c.1847G>T	NP_001191232.1:p.Gly616Val
NM_201413.2:c.2069G>T	NP_958816.1:p.Gly690Val
NM_201414.2:c.1901G>T	NP_958817.1:p.Gly634Val
NM_000484.4:c.2126G>T MANE Select	NP_000475.1:p.Gly709Val
NM_001136129.3:c.1733G>T	NP_001129601.1:p.Gly578Val
NM_001136130.3:c.1958G>T	NP_001129602.1:p.Gly653Val
NM_001204301.2:c.2072G>T	NP_001191230.1:p.Gly691Val
NM_001204302.2:c.2015G>T	NP_001191231.1:p.Gly672Val
NM_001204303.2:c.1847G>T	NP_001191232.1:p.Gly616Val
NM_201413.3:c.2069G>T	NP_958816.1:p.Gly690Val
NM_201414.3:c.1901G>T	NP_958817.1:p.Gly634Val
NM_001136131.3:c.1796G>T	NP_001129603.1:p.Gly599Val
NM_001385253.1:c.1958G>T	NP_001372182.1:p.Gly653Val