Canonical Allele Identifier: CA225507
Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 98238
ClinVar RCV Id: RCV000084571
dbSNP Id: rs63750868

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891789A>G , CM000683.2:g.25891789A>G GRCh38
NC_000021.8:g.27264101A>G , CM000683.1:g.27264101A>G GRCh37
NC_000021.7:g.26185972A>G NCBI36
NG_007376.1:g.284032T>C
NG_007376.2:g.284340T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2144T>C MANE Select ENSP00000284981.4:p.Val715Ala
ENST00000346798.7:c.2144T>C ENSP00000284981.4:p.Val715Ala
ENST00000348990.9:c.1919T>C ENSP00000345463.5:p.Val640Ala
ENST00000354192.7:c.1751T>C ENSP00000346129.3:p.Val584Ala
ENST00000357903.7:c.2087T>C ENSP00000350578.3:p.Val696Ala
ENST00000358918.7:c.2090T>C ENSP00000351796.3:p.Val697Ala
ENST00000359726.7:c.1814T>C ENSP00000352760.4:p.Val605Ala
ENST00000439274.6:c.1976T>C ENSP00000398879.2:p.Val659Ala
ENST00000440126.7:c.2072T>C ENSP00000387483.2:p.Val691Ala
ENST00000464867.1:n.491T>C
NM_000484.3:c.2144T>C NP_000475.1:p.Val715Ala
NM_001136016.3:c.2072T>C NP_001129488.1:p.Val691Ala
NM_001136129.2:c.1751T>C NP_001129601.1:p.Val584Ala
NM_001136130.2:c.1976T>C NP_001129602.1:p.Val659Ala
NM_001136131.2:c.1814T>C NP_001129603.1:p.Val605Ala
NM_001204301.1:c.2090T>C NP_001191230.1:p.Val697Ala
NM_001204302.1:c.2033T>C NP_001191231.1:p.Val678Ala
NM_001204303.1:c.1865T>C NP_001191232.1:p.Val622Ala
NM_201413.2:c.2087T>C NP_958816.1:p.Val696Ala
NM_201414.2:c.1919T>C NP_958817.1:p.Val640Ala
NM_000484.4:c.2144T>C MANE Select NP_000475.1:p.Val715Ala
NM_001136129.3:c.1751T>C NP_001129601.1:p.Val584Ala
NM_001136130.3:c.1976T>C NP_001129602.1:p.Val659Ala
NM_001204301.2:c.2090T>C NP_001191230.1:p.Val697Ala
NM_001204302.2:c.2033T>C NP_001191231.1:p.Val678Ala
NM_001204303.2:c.1865T>C NP_001191232.1:p.Val622Ala
NM_201413.3:c.2087T>C NP_958816.1:p.Val696Ala
NM_201414.3:c.1919T>C NP_958817.1:p.Val640Ala
NM_001136131.3:c.1814T>C NP_001129603.1:p.Val605Ala
NM_001385253.1:c.1976T>C NP_001372182.1:p.Val659Ala