Canonical Allele Identifier: CA319103437

Gene: APP

Linked Data

• dbSNP Id: rs752361848
• gnomAD v4: 21-25897617-C-T
• MyVariant Identifiers: chr21:g.27269929C>T (hg19) ; chr21:g.25897617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25897617C>T , CM000683.2:g.25897617C>T	GRCh38
NC_000021.8:g.27269929C>T , CM000683.1:g.27269929C>T	GRCh37
NC_000021.7:g.26191800C>T	NCBI36
NG_007376.1:g.278204G>A
NG_007376.2:g.278512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707132.1:n.1987G>A
ENST00000707133.1:n.417G>A
ENST00000707134.1:n.686G>A
ENST00000346798.8:c.2020G>A MANE Select	ENSP00000284981.4:p.Glu674Lys
ENST00000346798.7:c.2020G>A	ENSP00000284981.4:p.Glu674Lys
ENST00000348990.9:c.1795G>A	ENSP00000345463.5:p.Glu599Lys
ENST00000354192.7:c.1627G>A	ENSP00000346129.3:p.Glu543Lys
ENST00000357903.7:c.1963G>A	ENSP00000350578.3:p.Glu655Lys
ENST00000358918.7:c.1966G>A	ENSP00000351796.3:p.Glu656Lys
ENST00000359726.7:c.1690G>A	ENSP00000352760.4:p.Glu564Lys
ENST00000439274.6:c.1852G>A	ENSP00000398879.2:p.Glu618Lys
ENST00000440126.7:c.1948G>A	ENSP00000387483.2:p.Glu650Lys
ENST00000464867.1:n.367G>A
NM_000484.3:c.2020G>A	NP_000475.1:p.Glu674Lys
NM_001136016.3:c.1948G>A	NP_001129488.1:p.Glu650Lys
NM_001136129.2:c.1627G>A	NP_001129601.1:p.Glu543Lys
NM_001136130.2:c.1852G>A	NP_001129602.1:p.Glu618Lys
NM_001136131.2:c.1690G>A	NP_001129603.1:p.Glu564Lys
NM_001204301.1:c.1966G>A	NP_001191230.1:p.Glu656Lys
NM_001204302.1:c.1909G>A	NP_001191231.1:p.Glu637Lys
NM_001204303.1:c.1741G>A	NP_001191232.1:p.Glu581Lys
NM_201413.2:c.1963G>A	NP_958816.1:p.Glu655Lys
NM_201414.2:c.1795G>A	NP_958817.1:p.Glu599Lys
NM_000484.4:c.2020G>A MANE Select	NP_000475.1:p.Glu674Lys
NM_001136129.3:c.1627G>A	NP_001129601.1:p.Glu543Lys
NM_001136130.3:c.1852G>A	NP_001129602.1:p.Glu618Lys
NM_001204301.2:c.1966G>A	NP_001191230.1:p.Glu656Lys
NM_001204302.2:c.1909G>A	NP_001191231.1:p.Glu637Lys
NM_001204303.2:c.1741G>A	NP_001191232.1:p.Glu581Lys
NM_201413.3:c.1963G>A	NP_958816.1:p.Glu655Lys
NM_201414.3:c.1795G>A	NP_958817.1:p.Glu599Lys
NM_001136131.3:c.1690G>A	NP_001129603.1:p.Glu564Lys
NM_001385253.1:c.1852G>A	NP_001372182.1:p.Glu618Lys