Canonical Allele Identifier: CA127791

Gene: APP

Linked Data

• ClinVar Variation Id: 18088
• ClinVar RCV Id: RCV000019714 ; RCV000020308 ; RCV000084575 ; RCV002496421
• dbSNP Id: rs63750264
• gnomAD v4: 21-25891784-C-T
• MyVariant Identifiers: chr21:g.27264096C>T (hg19) ; chr21:g.25891784C>T (hg38)
• PubMed: PMID:1520398 ; PMID:1671712 ; PMID:1678057 ; PMID:1678058 ; PMID:1679288 ; PMID:1908231 ; PMID:8290965 ; PMID:8886002 ; PMID:20301414

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.25891784C>T , CM000683.2:g.25891784C>T	GRCh38
NC_000021.8:g.27264096C>T , CM000683.1:g.27264096C>T	GRCh37
NC_000021.7:g.26185967C>T	NCBI36
NG_007376.1:g.284037G>A
NG_007376.2:g.284345G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2116G>A
ENST00000707133.1:n.546G>A
ENST00000707134.1:n.815G>A
ENST00000346798.8:c.2149G>A MANE Select	ENSP00000284981.4:p.Val717Ile
ENST00000346798.7:c.2149G>A	ENSP00000284981.4:p.Val717Ile
ENST00000348990.9:c.1924G>A	ENSP00000345463.5:p.Val642Ile
ENST00000354192.7:c.1756G>A	ENSP00000346129.3:p.Val586Ile
ENST00000357903.7:c.2092G>A	ENSP00000350578.3:p.Val698Ile
ENST00000358918.7:c.2095G>A	ENSP00000351796.3:p.Val699Ile
ENST00000359726.7:c.1819G>A	ENSP00000352760.4:p.Val607Ile
ENST00000439274.6:c.1981G>A	ENSP00000398879.2:p.Val661Ile
ENST00000440126.7:c.2077G>A	ENSP00000387483.2:p.Val693Ile
ENST00000464867.1:n.496G>A
NM_000484.3:c.2149G>A	NP_000475.1:p.Val717Ile
NM_001136016.3:c.2077G>A	NP_001129488.1:p.Val693Ile
NM_001136129.2:c.1756G>A	NP_001129601.1:p.Val586Ile
NM_001136130.2:c.1981G>A	NP_001129602.1:p.Val661Ile
NM_001136131.2:c.1819G>A	NP_001129603.1:p.Val607Ile
NM_001204301.1:c.2095G>A	NP_001191230.1:p.Val699Ile
NM_001204302.1:c.2038G>A	NP_001191231.1:p.Val680Ile
NM_001204303.1:c.1870G>A	NP_001191232.1:p.Val624Ile
NM_201413.2:c.2092G>A	NP_958816.1:p.Val698Ile
NM_201414.2:c.1924G>A	NP_958817.1:p.Val642Ile
NM_000484.4:c.2149G>A MANE Select	NP_000475.1:p.Val717Ile
NM_001136129.3:c.1756G>A	NP_001129601.1:p.Val586Ile
NM_001136130.3:c.1981G>A	NP_001129602.1:p.Val661Ile
NM_001204301.2:c.2095G>A	NP_001191230.1:p.Val699Ile
NM_001204302.2:c.2038G>A	NP_001191231.1:p.Val680Ile
NM_001204303.2:c.1870G>A	NP_001191232.1:p.Val624Ile
NM_201413.3:c.2092G>A	NP_958816.1:p.Val698Ile
NM_201414.3:c.1924G>A	NP_958817.1:p.Val642Ile
NM_001136131.3:c.1819G>A	NP_001129603.1:p.Val607Ile
NM_001385253.1:c.1981G>A	NP_001372182.1:p.Val661Ile