Canonical Allele Identifier: CA127816

Gene: APP

Linked Data

• ClinVar Variation Id: 18105
• ClinVar RCV Id: RCV000019733 ; RCV000518713
• dbSNP Id: rs63750264
• MyVariant Identifiers: chr21:g.27264096C>G (hg19) ; chr21:g.25891784C>G (hg38)
• PubMed: PMID:10867787 ; PMID:11487570 ; PMID:15119738 ; PMID:15776278 ; PMID:16505331 ; PMID:24880964

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000707132.1:n.2116G>C
ENST00000707133.1:n.546G>C
ENST00000707134.1:n.815G>C
ENST00000346798.8:c.2149G>C MANE Select	ENSP00000284981.4:p.Val717Leu
ENST00000346798.7:c.2149G>C	ENSP00000284981.4:p.Val717Leu
ENST00000348990.9:c.1924G>C	ENSP00000345463.5:p.Val642Leu
ENST00000354192.7:c.1756G>C	ENSP00000346129.3:p.Val586Leu
ENST00000357903.7:c.2092G>C	ENSP00000350578.3:p.Val698Leu
ENST00000358918.7:c.2095G>C	ENSP00000351796.3:p.Val699Leu
ENST00000359726.7:c.1819G>C	ENSP00000352760.4:p.Val607Leu
ENST00000439274.6:c.1981G>C	ENSP00000398879.2:p.Val661Leu
ENST00000440126.7:c.2077G>C	ENSP00000387483.2:p.Val693Leu
ENST00000464867.1:n.496G>C
NM_000484.3:c.2149G>C	NP_000475.1:p.Val717Leu
NM_001136016.3:c.2077G>C	NP_001129488.1:p.Val693Leu
NM_001136129.2:c.1756G>C	NP_001129601.1:p.Val586Leu
NM_001136130.2:c.1981G>C	NP_001129602.1:p.Val661Leu
NM_001136131.2:c.1819G>C	NP_001129603.1:p.Val607Leu
NM_001204301.1:c.2095G>C	NP_001191230.1:p.Val699Leu
NM_001204302.1:c.2038G>C	NP_001191231.1:p.Val680Leu
NM_001204303.1:c.1870G>C	NP_001191232.1:p.Val624Leu
NM_201413.2:c.2092G>C	NP_958816.1:p.Val698Leu
NM_201414.2:c.1924G>C	NP_958817.1:p.Val642Leu
NM_000484.4:c.2149G>C MANE Select	NP_000475.1:p.Val717Leu
NM_001136129.3:c.1756G>C	NP_001129601.1:p.Val586Leu
NM_001136130.3:c.1981G>C	NP_001129602.1:p.Val661Leu
NM_001204301.2:c.2095G>C	NP_001191230.1:p.Val699Leu
NM_001204302.2:c.2038G>C	NP_001191231.1:p.Val680Leu
NM_001204303.2:c.1870G>C	NP_001191232.1:p.Val624Leu
NM_201413.3:c.2092G>C	NP_958816.1:p.Val698Leu
NM_201414.3:c.1924G>C	NP_958817.1:p.Val642Leu
NM_001136131.3:c.1819G>C	NP_001129603.1:p.Val607Leu
NM_001385253.1:c.1981G>C	NP_001372182.1:p.Val661Leu