Canonical Allele Identifier: CA409805560
Gene: APP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891790C>G , CM000683.2:g.25891790C>G GRCh38
NC_000021.8:g.27264102C>G , CM000683.1:g.27264102C>G GRCh37
NC_000021.7:g.26185973C>G NCBI36
NG_007376.1:g.284031G>C
NG_007376.2:g.284339G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2110G>C
ENST00000707133.1:n.540G>C
ENST00000707134.1:n.809G>C
ENST00000346798.8:c.2143G>C MANE Select ENSP00000284981.4:p.Val715Leu
ENST00000346798.7:c.2143G>C ENSP00000284981.4:p.Val715Leu
ENST00000348990.9:c.1918G>C ENSP00000345463.5:p.Val640Leu
ENST00000354192.7:c.1750G>C ENSP00000346129.3:p.Val584Leu
ENST00000357903.7:c.2086G>C ENSP00000350578.3:p.Val696Leu
ENST00000358918.7:c.2089G>C ENSP00000351796.3:p.Val697Leu
ENST00000359726.7:c.1813G>C ENSP00000352760.4:p.Val605Leu
ENST00000439274.6:c.1975G>C ENSP00000398879.2:p.Val659Leu
ENST00000440126.7:c.2071G>C ENSP00000387483.2:p.Val691Leu
ENST00000464867.1:n.490G>C
NM_000484.3:c.2143G>C NP_000475.1:p.Val715Leu
NM_001136016.3:c.2071G>C NP_001129488.1:p.Val691Leu
NM_001136129.2:c.1750G>C NP_001129601.1:p.Val584Leu
NM_001136130.2:c.1975G>C NP_001129602.1:p.Val659Leu
NM_001136131.2:c.1813G>C NP_001129603.1:p.Val605Leu
NM_001204301.1:c.2089G>C NP_001191230.1:p.Val697Leu
NM_001204302.1:c.2032G>C NP_001191231.1:p.Val678Leu
NM_001204303.1:c.1864G>C NP_001191232.1:p.Val622Leu
NM_201413.2:c.2086G>C NP_958816.1:p.Val696Leu
NM_201414.2:c.1918G>C NP_958817.1:p.Val640Leu
NM_000484.4:c.2143G>C MANE Select NP_000475.1:p.Val715Leu
NM_001136129.3:c.1750G>C NP_001129601.1:p.Val584Leu
NM_001136130.3:c.1975G>C NP_001129602.1:p.Val659Leu
NM_001204301.2:c.2089G>C NP_001191230.1:p.Val697Leu
NM_001204302.2:c.2032G>C NP_001191231.1:p.Val678Leu
NM_001204303.2:c.1864G>C NP_001191232.1:p.Val622Leu
NM_201413.3:c.2086G>C NP_958816.1:p.Val696Leu
NM_201414.3:c.1918G>C NP_958817.1:p.Val640Leu
NM_001136131.3:c.1813G>C NP_001129603.1:p.Val605Leu
NM_001385253.1:c.1975G>C NP_001372182.1:p.Val659Leu