Canonical Allele Identifier: CA748234268

Gene: APP

Linked Data

• dbSNP Id: rs1316850843
• gnomAD v3: 21-25881356-G-A
• gnomAD v4: 21-25881356-G-A
• MyVariant Identifiers: chr21:g.27253667G>A (hg19) ; chr21:g.25881356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25881356G>A , CM000683.2:g.25881356G>A	GRCh38
NC_000021.8:g.27253667G>A , CM000683.1:g.27253667G>A	GRCh37
NC_000021.7:g.26175538G>A	NCBI36
NG_007376.1:g.294466C>T
NG_007376.2:g.294773C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2594C>T
ENST00000707133.1:n.1024C>T
ENST00000707134.1:n.1293C>T
ENST00000346798.8:c.*314C>T MANE Select	ENSP00000284981.4:n.*314C>T
ENST00000346798.7:c.*314C>T	ENSP00000284981.4:n.*314C>T
ENST00000348990.9:c.*314C>T	ENSP00000345463.5:n.*314C>T
ENST00000354192.7:c.*314C>T	ENSP00000346129.3:n.*314C>T
ENST00000357903.7:c.*314C>T	ENSP00000350578.3:n.*314C>T
ENST00000359726.7:c.*314C>T	ENSP00000352760.4:n.*314C>T
ENST00000439274.6:c.*314C>T	ENSP00000398879.2:n.*314C>T
ENST00000440126.7:c.*314C>T	ENSP00000387483.2:n.*314C>T
NM_000484.3:c.*314C>T	NP_000475.1:n.*314C>T
NM_001136016.3:c.*314C>T	NP_001129488.1:n.*314C>T
NM_001136129.2:c.*314C>T	NP_001129601.1:n.*314C>T
NM_001136130.2:c.*314C>T	NP_001129602.1:n.*314C>T
NM_001136131.2:c.*314C>T	NP_001129603.1:n.*314C>T
NM_001204301.1:c.*314C>T	NP_001191230.1:n.*314C>T
NM_001204302.1:c.*314C>T	NP_001191231.1:n.*314C>T
NM_001204303.1:c.*314C>T	NP_001191232.1:n.*314C>T
NM_201413.2:c.*314C>T	NP_958816.1:n.*314C>T
NM_201414.2:c.*314C>T	NP_958817.1:n.*314C>T
NM_000484.4:c.*314C>T MANE Select	NP_000475.1:n.*314C>T
NM_001136129.3:c.*314C>T	NP_001129601.1:n.*314C>T
NM_001136130.3:c.*314C>T	NP_001129602.1:n.*314C>T
NM_001204301.2:c.*314C>T	NP_001191230.1:n.*314C>T
NM_001204302.2:c.*314C>T	NP_001191231.1:n.*314C>T
NM_001204303.2:c.*314C>T	NP_001191232.1:n.*314C>T
NM_201413.3:c.*314C>T	NP_958816.1:n.*314C>T
NM_201414.3:c.*314C>T	NP_958817.1:n.*314C>T
NM_001136131.3:c.*314C>T	NP_001129603.1:n.*314C>T
NM_001385253.1:c.*314C>T	NP_001372182.1:n.*314C>T