Canonical Allele Identifier: CA409805537
Gene: APP HGNC NCBI

Linked Data

dbSNP Id: rs2037712098

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891777G>A , CM000683.2:g.25891777G>A GRCh38
NC_000021.8:g.27264089G>A , CM000683.1:g.27264089G>A GRCh37
NC_000021.7:g.26185960G>A NCBI36
NG_007376.1:g.284044C>T
NG_007376.2:g.284352C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.2123C>T
ENST00000707133.1:n.553C>T
ENST00000707134.1:n.822C>T
ENST00000346798.8:c.2156C>T MANE Select ENSP00000284981.4:p.Thr719Ile
ENST00000346798.7:c.2156C>T ENSP00000284981.4:p.Thr719Ile
ENST00000348990.9:c.1931C>T ENSP00000345463.5:p.Thr644Ile
ENST00000354192.7:c.1763C>T ENSP00000346129.3:p.Thr588Ile
ENST00000357903.7:c.2099C>T ENSP00000350578.3:p.Thr700Ile
ENST00000358918.7:c.2102C>T ENSP00000351796.3:p.Thr701Ile
ENST00000359726.7:c.1826C>T ENSP00000352760.4:p.Thr609Ile
ENST00000439274.6:c.1988C>T ENSP00000398879.2:p.Thr663Ile
ENST00000440126.7:c.2084C>T ENSP00000387483.2:p.Thr695Ile
ENST00000464867.1:n.503C>T
NM_000484.3:c.2156C>T NP_000475.1:p.Thr719Ile
NM_001136016.3:c.2084C>T NP_001129488.1:p.Thr695Ile
NM_001136129.2:c.1763C>T NP_001129601.1:p.Thr588Ile
NM_001136130.2:c.1988C>T NP_001129602.1:p.Thr663Ile
NM_001136131.2:c.1826C>T NP_001129603.1:p.Thr609Ile
NM_001204301.1:c.2102C>T NP_001191230.1:p.Thr701Ile
NM_001204302.1:c.2045C>T NP_001191231.1:p.Thr682Ile
NM_001204303.1:c.1877C>T NP_001191232.1:p.Thr626Ile
NM_201413.2:c.2099C>T NP_958816.1:p.Thr700Ile
NM_201414.2:c.1931C>T NP_958817.1:p.Thr644Ile
NM_000484.4:c.2156C>T MANE Select NP_000475.1:p.Thr719Ile
NM_001136129.3:c.1763C>T NP_001129601.1:p.Thr588Ile
NM_001136130.3:c.1988C>T NP_001129602.1:p.Thr663Ile
NM_001204301.2:c.2102C>T NP_001191230.1:p.Thr701Ile
NM_001204302.2:c.2045C>T NP_001191231.1:p.Thr682Ile
NM_001204303.2:c.1877C>T NP_001191232.1:p.Thr626Ile
NM_201413.3:c.2099C>T NP_958816.1:p.Thr700Ile
NM_201414.3:c.1931C>T NP_958817.1:p.Thr644Ile
NM_001136131.3:c.1826C>T NP_001129603.1:p.Thr609Ile
NM_001385253.1:c.1988C>T NP_001372182.1:p.Thr663Ile