Canonical Allele Identifier: CA127790
Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 18087
ClinVar RCV Id: RCV000019713
dbSNP Id: rs63750579

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891856C>G , CM000683.2:g.25891856C>G GRCh38
NC_000021.8:g.27264168C>G , CM000683.1:g.27264168C>G GRCh37
NC_000021.7:g.26186039C>G NCBI36
NG_007376.1:g.283965G>C
NG_007376.2:g.284273G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2077G>C MANE Select ENSP00000284981.4:p.Glu693Gln
ENST00000346798.7:c.2077G>C ENSP00000284981.4:p.Glu693Gln
ENST00000348990.9:c.1852G>C ENSP00000345463.5:p.Glu618Gln
ENST00000354192.7:c.1684G>C ENSP00000346129.3:p.Glu562Gln
ENST00000357903.7:c.2020G>C ENSP00000350578.3:p.Glu674Gln
ENST00000358918.7:c.2023G>C ENSP00000351796.3:p.Glu675Gln
ENST00000359726.7:c.1747G>C ENSP00000352760.4:p.Glu583Gln
ENST00000439274.6:c.1909G>C ENSP00000398879.2:p.Glu637Gln
ENST00000440126.7:c.2005G>C ENSP00000387483.2:p.Glu669Gln
NM_000484.3:c.2077G>C NP_000475.1:p.Glu693Gln
NM_001136016.3:c.2005G>C NP_001129488.1:p.Glu669Gln
NM_001136129.2:c.1684G>C NP_001129601.1:p.Glu562Gln
NM_001136130.2:c.1909G>C NP_001129602.1:p.Glu637Gln
NM_001136131.2:c.1747G>C NP_001129603.1:p.Glu583Gln
NM_001204301.1:c.2023G>C NP_001191230.1:p.Glu675Gln
NM_001204302.1:c.1966G>C NP_001191231.1:p.Glu656Gln
NM_001204303.1:c.1798G>C NP_001191232.1:p.Glu600Gln
NM_201413.2:c.2020G>C NP_958816.1:p.Glu674Gln
NM_201414.2:c.1852G>C NP_958817.1:p.Glu618Gln
NM_000484.4:c.2077G>C MANE Select NP_000475.1:p.Glu693Gln
NM_001136129.3:c.1684G>C NP_001129601.1:p.Glu562Gln
NM_001136130.3:c.1909G>C NP_001129602.1:p.Glu637Gln
NM_001204301.2:c.2023G>C NP_001191230.1:p.Glu675Gln
NM_001204302.2:c.1966G>C NP_001191231.1:p.Glu656Gln
NM_001204303.2:c.1798G>C NP_001191232.1:p.Glu600Gln
NM_201413.3:c.2020G>C NP_958816.1:p.Glu674Gln
NM_201414.3:c.1852G>C NP_958817.1:p.Glu618Gln
NM_001136131.3:c.1747G>C NP_001129603.1:p.Glu583Gln
NM_001385253.1:c.1909G>C NP_001372182.1:p.Glu637Gln