Canonical Allele Identifier: CA2383603146
Community Standard Title: NM_000484.4(APP):c.1033+996T=
Gene: APP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25999019A= , CM000683.2:g.25999019A= GRCh38
NC_000021.8:g.27371334A= , CM000683.1:g.27371334A= GRCh37
NC_000021.7:g.26293205A= NCBI36
NG_007376.1:g.176799T=
NG_007376.2:g.177110T=

Transcript Alleles

HGVS Amino-acid Change
NM_000484.4:c.1033+996T= MANE Select NP_000475.1:n.1033+996T=
ENST00000346798.8:c.1033+996T= MANE Select ENSP00000284981.4:n.1033+996T=
NM_000484.3:c.1033+996T= NP_000475.1:n.1033+996T=
NM_001136016.3:c.1018+996T= NP_001129488.1:n.1018+996T=
NM_001136129.2:c.698-16542T= NP_001129601.1:n.698-16542T=
NM_001136129.3:c.698-16542T= NP_001129601.1:n.698-16542T=
NM_001136130.2:c.865+996T= NP_001129602.1:n.865+996T=
NM_001136130.3:c.865+996T= NP_001129602.1:n.865+996T=
NM_001136131.2:c.761-16542T= NP_001129603.1:n.761-16542T=
NM_001136131.3:c.761-16542T= NP_001129603.1:n.761-16542T=
NM_001204301.1:c.1033+996T= NP_001191230.1:n.1033+996T=
NM_001204301.2:c.1033+996T= NP_001191230.1:n.1033+996T=
NM_001204302.1:c.1033+996T= NP_001191231.1:n.1033+996T=
NM_001204302.2:c.1033+996T= NP_001191231.1:n.1033+996T=
NM_001204303.1:c.866-16542T= NP_001191232.1:n.866-16542T=
NM_001204303.2:c.866-16542T= NP_001191232.1:n.866-16542T=
NM_001385253.1:c.866-1603T= NP_001372182.1:n.866-1603T=
NM_201413.2:c.1033+996T= NP_958816.1:n.1033+996T=
NM_201413.3:c.1033+996T= NP_958816.1:n.1033+996T=
NM_201414.2:c.866-16542T= NP_958817.1:n.866-16542T=
NM_201414.3:c.866-16542T= NP_958817.1:n.866-16542T=
ENST00000346798.7:c.1033+996T= ENSP00000284981.4:n.1033+996T=
ENST00000348990.9:c.866-16542T= ENSP00000345463.5:n.866-16542T=
ENST00000354192.7:c.698-16542T= ENSP00000346129.3:n.698-16542T=
ENST00000357903.7:c.1033+996T= ENSP00000350578.3:n.1033+996T=
ENST00000358918.7:c.1033+996T= ENSP00000351796.3:n.1033+996T=
ENST00000359726.7:c.761-16542T= ENSP00000352760.4:n.761-16542T=
ENST00000415997.1:c.237-1603T=
ENST00000439274.6:c.865+996T= ENSP00000398879.2:n.865+996T=
ENST00000440126.7:c.1018+996T= ENSP00000387483.2:n.1018+996T=
ENST00000448850.5:c.797+996T=
ENST00000491395.5:n.390+996T=
ENST00000707132.1:n.1058-16542T=
XM_024452075.1:c.1033+996T= XP_024307843.1:n.1033+996T=