Canonical Allele Identifier: CA225511
Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 98240
ClinVar RCV Id: RCV000084574
dbSNP Id: rs63750851

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891786A>G , CM000683.2:g.25891786A>G GRCh38
NC_000021.8:g.27264098A>G , CM000683.1:g.27264098A>G GRCh37
NC_000021.7:g.26185969A>G NCBI36
NG_007376.1:g.284035T>C
NG_007376.2:g.284343T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707132.1:n.2114T>C
ENST00000707133.1:n.544T>C
ENST00000707134.1:n.813T>C
ENST00000346798.8:c.2147T>C MANE Select ENSP00000284981.4:p.Ile716Thr
ENST00000346798.7:c.2147T>C ENSP00000284981.4:p.Ile716Thr
ENST00000348990.9:c.1922T>C ENSP00000345463.5:p.Ile641Thr
ENST00000354192.7:c.1754T>C ENSP00000346129.3:p.Ile585Thr
ENST00000357903.7:c.2090T>C ENSP00000350578.3:p.Ile697Thr
ENST00000358918.7:c.2093T>C ENSP00000351796.3:p.Ile698Thr
ENST00000359726.7:c.1817T>C ENSP00000352760.4:p.Ile606Thr
ENST00000439274.6:c.1979T>C ENSP00000398879.2:p.Ile660Thr
ENST00000440126.7:c.2075T>C ENSP00000387483.2:p.Ile692Thr
ENST00000464867.1:n.494T>C
NM_000484.3:c.2147T>C NP_000475.1:p.Ile716Thr
NM_001136016.3:c.2075T>C NP_001129488.1:p.Ile692Thr
NM_001136129.2:c.1754T>C NP_001129601.1:p.Ile585Thr
NM_001136130.2:c.1979T>C NP_001129602.1:p.Ile660Thr
NM_001136131.2:c.1817T>C NP_001129603.1:p.Ile606Thr
NM_001204301.1:c.2093T>C NP_001191230.1:p.Ile698Thr
NM_001204302.1:c.2036T>C NP_001191231.1:p.Ile679Thr
NM_001204303.1:c.1868T>C NP_001191232.1:p.Ile623Thr
NM_201413.2:c.2090T>C NP_958816.1:p.Ile697Thr
NM_201414.2:c.1922T>C NP_958817.1:p.Ile641Thr
NM_000484.4:c.2147T>C MANE Select NP_000475.1:p.Ile716Thr
NM_001136129.3:c.1754T>C NP_001129601.1:p.Ile585Thr
NM_001136130.3:c.1979T>C NP_001129602.1:p.Ile660Thr
NM_001204301.2:c.2093T>C NP_001191230.1:p.Ile698Thr
NM_001204302.2:c.2036T>C NP_001191231.1:p.Ile679Thr
NM_001204303.2:c.1868T>C NP_001191232.1:p.Ile623Thr
NM_201413.3:c.2090T>C NP_958816.1:p.Ile697Thr
NM_201414.3:c.1922T>C NP_958817.1:p.Ile641Thr
NM_001136131.3:c.1817T>C NP_001129603.1:p.Ile606Thr
NM_001385253.1:c.1979T>C NP_001372182.1:p.Ile660Thr