Canonical Allele Identifier: CA127797
Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 18095
dbSNP Id: rs63750363

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897642C>G , CM000683.2:g.25897642C>G GRCh38
NC_000021.8:g.27269954C>G , CM000683.1:g.27269954C>G GRCh37
NC_000021.7:g.26191825C>G NCBI36
NG_007376.1:g.278179G>C
NG_007376.2:g.278487G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.1962G>C
ENST00000707133.1:n.392G>C
ENST00000707134.1:n.661G>C
ENST00000346798.8:c.1995G>C MANE Select ENSP00000284981.4:p.Glu665Asp
ENST00000346798.7:c.1995G>C ENSP00000284981.4:p.Glu665Asp
ENST00000348990.9:c.1770G>C ENSP00000345463.5:p.Glu590Asp
ENST00000354192.7:c.1602G>C ENSP00000346129.3:p.Glu534Asp
ENST00000357903.7:c.1938G>C ENSP00000350578.3:p.Glu646Asp
ENST00000358918.7:c.1941G>C ENSP00000351796.3:p.Glu647Asp
ENST00000359726.7:c.1665G>C ENSP00000352760.4:p.Glu555Asp
ENST00000439274.6:c.1827G>C ENSP00000398879.2:p.Glu609Asp
ENST00000440126.7:c.1923G>C ENSP00000387483.2:p.Glu641Asp
ENST00000464867.1:n.342G>C
NM_000484.3:c.1995G>C NP_000475.1:p.Glu665Asp
NM_001136016.3:c.1923G>C NP_001129488.1:p.Glu641Asp
NM_001136129.2:c.1602G>C NP_001129601.1:p.Glu534Asp
NM_001136130.2:c.1827G>C NP_001129602.1:p.Glu609Asp
NM_001136131.2:c.1665G>C NP_001129603.1:p.Glu555Asp
NM_001204301.1:c.1941G>C NP_001191230.1:p.Glu647Asp
NM_001204302.1:c.1884G>C NP_001191231.1:p.Glu628Asp
NM_001204303.1:c.1716G>C NP_001191232.1:p.Glu572Asp
NM_201413.2:c.1938G>C NP_958816.1:p.Glu646Asp
NM_201414.2:c.1770G>C NP_958817.1:p.Glu590Asp
NM_000484.4:c.1995G>C MANE Select NP_000475.1:p.Glu665Asp
NM_001136129.3:c.1602G>C NP_001129601.1:p.Glu534Asp
NM_001136130.3:c.1827G>C NP_001129602.1:p.Glu609Asp
NM_001204301.2:c.1941G>C NP_001191230.1:p.Glu647Asp
NM_001204302.2:c.1884G>C NP_001191231.1:p.Glu628Asp
NM_001204303.2:c.1716G>C NP_001191232.1:p.Glu572Asp
NM_201413.3:c.1938G>C NP_958816.1:p.Glu646Asp
NM_201414.3:c.1770G>C NP_958817.1:p.Glu590Asp
NM_001136131.3:c.1665G>C NP_001129603.1:p.Glu555Asp
NM_001385253.1:c.1827G>C NP_001372182.1:p.Glu609Asp