Canonical Allele Identifier: CA9265950

Gene: AKAP8

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15360978C>T , CM000681.2:g.15360978C>T	GRCh38
NC_000019.9:g.15471789C>T , CM000681.1:g.15471789C>T	GRCh37
NC_000019.8:g.15332789C>T	NCBI36
NG_046946.1:g.23851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269701.7:c.1397G>A MANE Select	ENSP00000269701.1:p.Gly466Glu
ENST00000598597.7:c.*460G>A	ENSP00000469908.3:n.*460G>A
ENST00000599883.2:c.*460G>A	ENSP00000468902.2:n.*460G>A
ENST00000679798.1:n.1693G>A
ENST00000680199.1:n.473G>A
ENST00000680245.1:c.1358G>A	ENSP00000504982.1:p.Gly453Glu
ENST00000680336.1:n.2114G>A
ENST00000680461.1:c.*715G>A	ENSP00000506081.1:n.*715G>A
ENST00000681018.1:n.1999G>A
ENST00000681812.1:c.*295G>A	ENSP00000506597.1:n.*295G>A
ENST00000269701.6:c.1397G>A	ENSP00000269701.1:p.Gly466Glu
ENST00000598597.6:c.995G>A
NM_005858.3:c.1397G>A	NP_005849.1:p.Gly466Glu
XM_011527624.1:c.1097G>A	XP_011525926.1:p.Gly366Glu
XM_011527625.1:c.839G>A	XP_011525927.1:p.Gly280Glu
XR_244062.3:n.1652G>A
XM_011527624.3:c.1097G>A	XP_011525926.1:p.Gly366Glu
XM_017026141.2:c.1175G>A	XP_016881630.1:p.Gly392Glu
XM_024451313.1:c.647G>A	XP_024307081.1:p.Gly216Glu
XR_001753582.1:n.1639G>A
NM_005858.4:c.1397G>A MANE Select	NP_005849.1:p.Gly466Glu