Canonical Allele Identifier: CA319103425
Gene: APP HGNC NCBI

Linked Data

dbSNP Id: rs559207950

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897610C>A , CM000683.2:g.25897610C>A GRCh38
NC_000021.8:g.27269922C>A , CM000683.1:g.27269922C>A GRCh37
NC_000021.7:g.26191793C>A NCBI36
NG_007376.1:g.278211G>T
NG_007376.2:g.278519G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.1994G>T
ENST00000707133.1:n.424G>T
ENST00000707134.1:n.693G>T
ENST00000346798.8:c.2027G>T MANE Select ENSP00000284981.4:p.Arg676Leu
ENST00000346798.7:c.2027G>T ENSP00000284981.4:p.Arg676Leu
ENST00000348990.9:c.1802G>T ENSP00000345463.5:p.Arg601Leu
ENST00000354192.7:c.1634G>T ENSP00000346129.3:p.Arg545Leu
ENST00000357903.7:c.1970G>T ENSP00000350578.3:p.Arg657Leu
ENST00000358918.7:c.1973G>T ENSP00000351796.3:p.Arg658Leu
ENST00000359726.7:c.1697G>T ENSP00000352760.4:p.Arg566Leu
ENST00000439274.6:c.1859G>T ENSP00000398879.2:p.Arg620Leu
ENST00000440126.7:c.1955G>T ENSP00000387483.2:p.Arg652Leu
ENST00000464867.1:n.374G>T
NM_000484.3:c.2027G>T NP_000475.1:p.Arg676Leu
NM_001136016.3:c.1955G>T NP_001129488.1:p.Arg652Leu
NM_001136129.2:c.1634G>T NP_001129601.1:p.Arg545Leu
NM_001136130.2:c.1859G>T NP_001129602.1:p.Arg620Leu
NM_001136131.2:c.1697G>T NP_001129603.1:p.Arg566Leu
NM_001204301.1:c.1973G>T NP_001191230.1:p.Arg658Leu
NM_001204302.1:c.1916G>T NP_001191231.1:p.Arg639Leu
NM_001204303.1:c.1748G>T NP_001191232.1:p.Arg583Leu
NM_201413.2:c.1970G>T NP_958816.1:p.Arg657Leu
NM_201414.2:c.1802G>T NP_958817.1:p.Arg601Leu
NM_000484.4:c.2027G>T MANE Select NP_000475.1:p.Arg676Leu
NM_001136129.3:c.1634G>T NP_001129601.1:p.Arg545Leu
NM_001136130.3:c.1859G>T NP_001129602.1:p.Arg620Leu
NM_001204301.2:c.1973G>T NP_001191230.1:p.Arg658Leu
NM_001204302.2:c.1916G>T NP_001191231.1:p.Arg639Leu
NM_001204303.2:c.1748G>T NP_001191232.1:p.Arg583Leu
NM_201413.3:c.1970G>T NP_958816.1:p.Arg657Leu
NM_201414.3:c.1802G>T NP_958817.1:p.Arg601Leu
NM_001136131.3:c.1697G>T NP_001129603.1:p.Arg566Leu
NM_001385253.1:c.1859G>T NP_001372182.1:p.Arg620Leu