Canonical Allele Identifier: CA511685973
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264064C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891752C>T , CM000683.2:g.25891752C>T GRCh38
NC_000021.8:g.27264064C>T , CM000683.1:g.27264064C>T GRCh37
NC_000021.7:g.26185935C>T NCBI36
NG_007376.1:g.284069G>A
NG_007376.2:g.284377G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000707132.1:n.2148G>A
ENST00000707133.1:n.578G>A
ENST00000707134.1:n.847G>A
ENST00000346798.8:c.2181G>A MANE Select ENSP00000284981.4:p.Gln727=
ENST00000346798.7:c.2181G>A ENSP00000284981.4:p.Gln727=
ENST00000348990.9:c.1956G>A ENSP00000345463.5:p.Gln652=
ENST00000354192.7:c.1788G>A ENSP00000346129.3:p.Gln596=
ENST00000357903.7:c.2124G>A ENSP00000350578.3:p.Gln708=
ENST00000358918.7:c.2127G>A ENSP00000351796.3:p.Gln709=
ENST00000359726.7:c.1851G>A ENSP00000352760.4:p.Gln617=
ENST00000439274.6:c.2013G>A ENSP00000398879.2:p.Gln671=
ENST00000440126.7:c.2109G>A ENSP00000387483.2:p.Gln703=
ENST00000464867.1:n.528G>A
NM_000484.3:c.2181G>A NP_000475.1:p.Gln727=
NM_001136016.3:c.2109G>A NP_001129488.1:p.Gln703=
NM_001136129.2:c.1788G>A NP_001129601.1:p.Gln596=
NM_001136130.2:c.2013G>A NP_001129602.1:p.Gln671=
NM_001136131.2:c.1851G>A NP_001129603.1:p.Gln617=
NM_001204301.1:c.2127G>A NP_001191230.1:p.Gln709=
NM_001204302.1:c.2070G>A NP_001191231.1:p.Gln690=
NM_001204303.1:c.1902G>A NP_001191232.1:p.Gln634=
NM_201413.2:c.2124G>A NP_958816.1:p.Gln708=
NM_201414.2:c.1956G>A NP_958817.1:p.Gln652=
NM_000484.4:c.2181G>A MANE Select NP_000475.1:p.Gln727=
NM_001136129.3:c.1788G>A NP_001129601.1:p.Gln596=
NM_001136130.3:c.2013G>A NP_001129602.1:p.Gln671=
NM_001204301.2:c.2127G>A NP_001191230.1:p.Gln709=
NM_001204302.2:c.2070G>A NP_001191231.1:p.Gln690=
NM_001204303.2:c.1902G>A NP_001191232.1:p.Gln634=
NM_201413.3:c.2124G>A NP_958816.1:p.Gln708=
NM_201414.3:c.1956G>A NP_958817.1:p.Gln652=
NM_001136131.3:c.1851G>A NP_001129603.1:p.Gln617=
NM_001385253.1:c.2013G>A NP_001372182.1:p.Gln671=