Canonical Allele Identifier: CA409805668

Gene: APP

Linked Data

• dbSNP Id: rs1303178005
• gnomAD v2: 21-27264158-C-T
• gnomAD v4: 21-25891846-C-T
• MyVariant Identifiers: chr21:g.27264158C>T (hg19) ; chr21:g.25891846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891846C>T , CM000683.2:g.25891846C>T	GRCh38
NC_000021.8:g.27264158C>T , CM000683.1:g.27264158C>T	GRCh37
NC_000021.7:g.26186029C>T	NCBI36
NG_007376.1:g.283975G>A
NG_007376.2:g.284283G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2054G>A
ENST00000707133.1:n.484G>A
ENST00000707134.1:n.753G>A
ENST00000346798.8:c.2087G>A MANE Select	ENSP00000284981.4:p.Gly696Asp
ENST00000346798.7:c.2087G>A	ENSP00000284981.4:p.Gly696Asp
ENST00000348990.9:c.1862G>A	ENSP00000345463.5:p.Gly621Asp
ENST00000354192.7:c.1694G>A	ENSP00000346129.3:p.Gly565Asp
ENST00000357903.7:c.2030G>A	ENSP00000350578.3:p.Gly677Asp
ENST00000358918.7:c.2033G>A	ENSP00000351796.3:p.Gly678Asp
ENST00000359726.7:c.1757G>A	ENSP00000352760.4:p.Gly586Asp
ENST00000439274.6:c.1919G>A	ENSP00000398879.2:p.Gly640Asp
ENST00000440126.7:c.2015G>A	ENSP00000387483.2:p.Gly672Asp
ENST00000464867.1:n.434G>A
NM_000484.3:c.2087G>A	NP_000475.1:p.Gly696Asp
NM_001136016.3:c.2015G>A	NP_001129488.1:p.Gly672Asp
NM_001136129.2:c.1694G>A	NP_001129601.1:p.Gly565Asp
NM_001136130.2:c.1919G>A	NP_001129602.1:p.Gly640Asp
NM_001136131.2:c.1757G>A	NP_001129603.1:p.Gly586Asp
NM_001204301.1:c.2033G>A	NP_001191230.1:p.Gly678Asp
NM_001204302.1:c.1976G>A	NP_001191231.1:p.Gly659Asp
NM_001204303.1:c.1808G>A	NP_001191232.1:p.Gly603Asp
NM_201413.2:c.2030G>A	NP_958816.1:p.Gly677Asp
NM_201414.2:c.1862G>A	NP_958817.1:p.Gly621Asp
NM_000484.4:c.2087G>A MANE Select	NP_000475.1:p.Gly696Asp
NM_001136129.3:c.1694G>A	NP_001129601.1:p.Gly565Asp
NM_001136130.3:c.1919G>A	NP_001129602.1:p.Gly640Asp
NM_001204301.2:c.2033G>A	NP_001191230.1:p.Gly678Asp
NM_001204302.2:c.1976G>A	NP_001191231.1:p.Gly659Asp
NM_001204303.2:c.1808G>A	NP_001191232.1:p.Gly603Asp
NM_201413.3:c.2030G>A	NP_958816.1:p.Gly677Asp
NM_201414.3:c.1862G>A	NP_958817.1:p.Gly621Asp
NM_001136131.3:c.1757G>A	NP_001129603.1:p.Gly586Asp
NM_001385253.1:c.1919G>A	NP_001372182.1:p.Gly640Asp