Canonical Allele Identifier: CA127803
Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 18100
dbSNP Id: rs63750973

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891792G>A , CM000683.2:g.25891792G>A GRCh38
NC_000021.8:g.27264104G>A , CM000683.1:g.27264104G>A GRCh37
NC_000021.7:g.26185975G>A NCBI36
NG_007376.1:g.284029C>T
NG_007376.2:g.284337C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2108C>T
ENST00000707133.1:n.538C>T
ENST00000707134.1:n.807C>T
ENST00000346798.8:c.2141C>T MANE Select ENSP00000284981.4:p.Thr714Ile
ENST00000346798.7:c.2141C>T ENSP00000284981.4:p.Thr714Ile
ENST00000348990.9:c.1916C>T ENSP00000345463.5:p.Thr639Ile
ENST00000354192.7:c.1748C>T ENSP00000346129.3:p.Thr583Ile
ENST00000357903.7:c.2084C>T ENSP00000350578.3:p.Thr695Ile
ENST00000358918.7:c.2087C>T ENSP00000351796.3:p.Thr696Ile
ENST00000359726.7:c.1811C>T ENSP00000352760.4:p.Thr604Ile
ENST00000439274.6:c.1973C>T ENSP00000398879.2:p.Thr658Ile
ENST00000440126.7:c.2069C>T ENSP00000387483.2:p.Thr690Ile
ENST00000464867.1:n.488C>T
NM_000484.3:c.2141C>T NP_000475.1:p.Thr714Ile
NM_001136016.3:c.2069C>T NP_001129488.1:p.Thr690Ile
NM_001136129.2:c.1748C>T NP_001129601.1:p.Thr583Ile
NM_001136130.2:c.1973C>T NP_001129602.1:p.Thr658Ile
NM_001136131.2:c.1811C>T NP_001129603.1:p.Thr604Ile
NM_001204301.1:c.2087C>T NP_001191230.1:p.Thr696Ile
NM_001204302.1:c.2030C>T NP_001191231.1:p.Thr677Ile
NM_001204303.1:c.1862C>T NP_001191232.1:p.Thr621Ile
NM_201413.2:c.2084C>T NP_958816.1:p.Thr695Ile
NM_201414.2:c.1916C>T NP_958817.1:p.Thr639Ile
NM_000484.4:c.2141C>T MANE Select NP_000475.1:p.Thr714Ile
NM_001136129.3:c.1748C>T NP_001129601.1:p.Thr583Ile
NM_001136130.3:c.1973C>T NP_001129602.1:p.Thr658Ile
NM_001204301.2:c.2087C>T NP_001191230.1:p.Thr696Ile
NM_001204302.2:c.2030C>T NP_001191231.1:p.Thr677Ile
NM_001204303.2:c.1862C>T NP_001191232.1:p.Thr621Ile
NM_201413.3:c.2084C>T NP_958816.1:p.Thr695Ile
NM_201414.3:c.1916C>T NP_958817.1:p.Thr639Ile
NM_001136131.3:c.1811C>T NP_001129603.1:p.Thr604Ile
NM_001385253.1:c.1973C>T NP_001372182.1:p.Thr658Ile