Canonical Allele Identifier: CA409805555
Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 2498894
ClinVar RCV Id: RCV003223103
dbSNP Id: rs63750399

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891787T>A , CM000683.2:g.25891787T>A GRCh38
NC_000021.8:g.27264099T>A , CM000683.1:g.27264099T>A GRCh37
NC_000021.7:g.26185970T>A NCBI36
NG_007376.1:g.284034A>T
NG_007376.2:g.284342A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.2113A>T
ENST00000707133.1:n.543A>T
ENST00000707134.1:n.812A>T
ENST00000346798.8:c.2146A>T MANE Select ENSP00000284981.4:p.Ile716Phe
ENST00000346798.7:c.2146A>T ENSP00000284981.4:p.Ile716Phe
ENST00000348990.9:c.1921A>T ENSP00000345463.5:p.Ile641Phe
ENST00000354192.7:c.1753A>T ENSP00000346129.3:p.Ile585Phe
ENST00000357903.7:c.2089A>T ENSP00000350578.3:p.Ile697Phe
ENST00000358918.7:c.2092A>T ENSP00000351796.3:p.Ile698Phe
ENST00000359726.7:c.1816A>T ENSP00000352760.4:p.Ile606Phe
ENST00000439274.6:c.1978A>T ENSP00000398879.2:p.Ile660Phe
ENST00000440126.7:c.2074A>T ENSP00000387483.2:p.Ile692Phe
ENST00000464867.1:n.493A>T
NM_000484.3:c.2146A>T NP_000475.1:p.Ile716Phe
NM_001136016.3:c.2074A>T NP_001129488.1:p.Ile692Phe
NM_001136129.2:c.1753A>T NP_001129601.1:p.Ile585Phe
NM_001136130.2:c.1978A>T NP_001129602.1:p.Ile660Phe
NM_001136131.2:c.1816A>T NP_001129603.1:p.Ile606Phe
NM_001204301.1:c.2092A>T NP_001191230.1:p.Ile698Phe
NM_001204302.1:c.2035A>T NP_001191231.1:p.Ile679Phe
NM_001204303.1:c.1867A>T NP_001191232.1:p.Ile623Phe
NM_201413.2:c.2089A>T NP_958816.1:p.Ile697Phe
NM_201414.2:c.1921A>T NP_958817.1:p.Ile641Phe
NM_000484.4:c.2146A>T MANE Select NP_000475.1:p.Ile716Phe
NM_001136129.3:c.1753A>T NP_001129601.1:p.Ile585Phe
NM_001136130.3:c.1978A>T NP_001129602.1:p.Ile660Phe
NM_001204301.2:c.2092A>T NP_001191230.1:p.Ile698Phe
NM_001204302.2:c.2035A>T NP_001191231.1:p.Ile679Phe
NM_001204303.2:c.1867A>T NP_001191232.1:p.Ile623Phe
NM_201413.3:c.2089A>T NP_958816.1:p.Ile697Phe
NM_201414.3:c.1921A>T NP_958817.1:p.Ile641Phe
NM_001136131.3:c.1816A>T NP_001129603.1:p.Ile606Phe
NM_001385253.1:c.1978A>T NP_001372182.1:p.Ile660Phe