Canonical Allele Identifier: CA3243796641
Community Standard Title: NM_000484.4(APP):c.2186C= (p.Thr729=)
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891747G= , CM000683.2:g.25891747G= GRCh38
NC_000021.8:g.27264059G= , CM000683.1:g.27264059G= GRCh37
NC_000021.7:g.26185930G= NCBI36
NG_007376.1:g.284074C=
NG_007376.2:g.284382C=

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.2186C= MANE Select NP_000475.1:p.Thr729=
ENST00000346798.8:c.2186C= MANE Select ENSP00000284981.4:p.Thr729=
NM_000484.3:c.2186C= NP_000475.1:p.Thr729=
NM_001136016.3:c.2114C= NP_001129488.1:p.Thr705=
NM_001136129.2:c.1793C= NP_001129601.1:p.Thr598=
NM_001136129.3:c.1793C= NP_001129601.1:p.Thr598=
NM_001136130.2:c.2018C= NP_001129602.1:p.Thr673=
NM_001136130.3:c.2018C= NP_001129602.1:p.Thr673=
NM_001136131.2:c.1856C= NP_001129603.1:p.Thr619=
NM_001136131.3:c.1856C= NP_001129603.1:p.Thr619=
NM_001204301.1:c.2132C= NP_001191230.1:p.Thr711=
NM_001204301.2:c.2132C= NP_001191230.1:p.Thr711=
NM_001204302.1:c.2075C= NP_001191231.1:p.Thr692=
NM_001204302.2:c.2075C= NP_001191231.1:p.Thr692=
NM_001204303.1:c.1907C= NP_001191232.1:p.Thr636=
NM_001204303.2:c.1907C= NP_001191232.1:p.Thr636=
NM_001385253.1:c.2018C= NP_001372182.1:p.Thr673=
NM_201413.2:c.2129C= NP_958816.1:p.Thr710=
NM_201413.3:c.2129C= NP_958816.1:p.Thr710=
NM_201414.2:c.1961C= NP_958817.1:p.Thr654=
NM_201414.3:c.1961C= NP_958817.1:p.Thr654=
ENST00000346798.7:c.2186C= ENSP00000284981.4:p.Thr729=
ENST00000348990.9:c.1961C= ENSP00000345463.5:p.Thr654=
ENST00000354192.7:c.1793C= ENSP00000346129.3:p.Thr598=
ENST00000357903.7:c.2129C= ENSP00000350578.3:p.Thr710=
ENST00000358918.7:c.2132C= ENSP00000351796.3:p.Thr711=
ENST00000359726.7:c.1856C= ENSP00000352760.4:p.Thr619=
ENST00000439274.6:c.2018C= ENSP00000398879.2:p.Thr673=
ENST00000440126.7:c.2114C= ENSP00000387483.2:p.Thr705=
ENST00000464867.1:n.533C=
ENST00000707132.1:n.2153C=
ENST00000707133.1:n.583C=
ENST00000707134.1:n.852C=