Canonical Allele Identifier: CA409805542
Gene: APP HGNC NCBI

Linked Data

ClinVar Variation Id: 1342870
ClinVar RCV Id: RCV001842233
dbSNP Id: rs2146237857

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891778T>G , CM000683.2:g.25891778T>G GRCh38
NC_000021.8:g.27264090T>G , CM000683.1:g.27264090T>G GRCh37
NC_000021.7:g.26185961T>G NCBI36
NG_007376.1:g.284043A>C
NG_007376.2:g.284351A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.2122A>C
ENST00000707133.1:n.552A>C
ENST00000707134.1:n.821A>C
ENST00000346798.8:c.2155A>C MANE Select ENSP00000284981.4:p.Thr719Pro
ENST00000346798.7:c.2155A>C ENSP00000284981.4:p.Thr719Pro
ENST00000348990.9:c.1930A>C ENSP00000345463.5:p.Thr644Pro
ENST00000354192.7:c.1762A>C ENSP00000346129.3:p.Thr588Pro
ENST00000357903.7:c.2098A>C ENSP00000350578.3:p.Thr700Pro
ENST00000358918.7:c.2101A>C ENSP00000351796.3:p.Thr701Pro
ENST00000359726.7:c.1825A>C ENSP00000352760.4:p.Thr609Pro
ENST00000439274.6:c.1987A>C ENSP00000398879.2:p.Thr663Pro
ENST00000440126.7:c.2083A>C ENSP00000387483.2:p.Thr695Pro
ENST00000464867.1:n.502A>C
NM_000484.3:c.2155A>C NP_000475.1:p.Thr719Pro
NM_001136016.3:c.2083A>C NP_001129488.1:p.Thr695Pro
NM_001136129.2:c.1762A>C NP_001129601.1:p.Thr588Pro
NM_001136130.2:c.1987A>C NP_001129602.1:p.Thr663Pro
NM_001136131.2:c.1825A>C NP_001129603.1:p.Thr609Pro
NM_001204301.1:c.2101A>C NP_001191230.1:p.Thr701Pro
NM_001204302.1:c.2044A>C NP_001191231.1:p.Thr682Pro
NM_001204303.1:c.1876A>C NP_001191232.1:p.Thr626Pro
NM_201413.2:c.2098A>C NP_958816.1:p.Thr700Pro
NM_201414.2:c.1930A>C NP_958817.1:p.Thr644Pro
NM_000484.4:c.2155A>C MANE Select NP_000475.1:p.Thr719Pro
NM_001136129.3:c.1762A>C NP_001129601.1:p.Thr588Pro
NM_001136130.3:c.1987A>C NP_001129602.1:p.Thr663Pro
NM_001204301.2:c.2101A>C NP_001191230.1:p.Thr701Pro
NM_001204302.2:c.2044A>C NP_001191231.1:p.Thr682Pro
NM_001204303.2:c.1876A>C NP_001191232.1:p.Thr626Pro
NM_201413.3:c.2098A>C NP_958816.1:p.Thr700Pro
NM_201414.3:c.1930A>C NP_958817.1:p.Thr644Pro
NM_001136131.3:c.1825A>C NP_001129603.1:p.Thr609Pro
NM_001385253.1:c.1987A>C NP_001372182.1:p.Thr663Pro