Canonical Allele Identifier: CA9266042

Gene: AKAP8

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15362146G>T , CM000681.2:g.15362146G>T	GRCh38
NC_000019.9:g.15472957G>T , CM000681.1:g.15472957G>T	GRCh37
NC_000019.8:g.15333957G>T	NCBI36
NG_046946.1:g.22683C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269701.7:c.1266C>A MANE Select	ENSP00000269701.1:p.Ser422Arg
ENST00000598597.7:c.*329C>A	ENSP00000469908.3:n.*329C>A
ENST00000599883.2:c.*329C>A	ENSP00000468902.2:n.*329C>A
ENST00000679798.1:n.1562C>A
ENST00000680199.1:n.342C>A
ENST00000680245.1:c.1227C>A	ENSP00000504982.1:p.Ser409Arg
ENST00000680336.1:n.1983C>A
ENST00000680461.1:c.*584C>A	ENSP00000506081.1:n.*584C>A
ENST00000681018.1:n.1868C>A
ENST00000681812.1:c.*164C>A	ENSP00000506597.1:n.*164C>A
ENST00000269701.6:c.1266C>A	ENSP00000269701.1:p.Ser422Arg
ENST00000537303.5:n.964C>A
ENST00000598597.6:c.864C>A
NM_005858.3:c.1266C>A	NP_005849.1:p.Ser422Arg
XM_011527624.1:c.966C>A	XP_011525926.1:p.Ser322Arg
XM_011527625.1:c.708C>A	XP_011525927.1:p.Ser236Arg
XR_244062.3:n.1521C>A
XM_011527624.3:c.966C>A	XP_011525926.1:p.Ser322Arg
XM_017026141.2:c.1044C>A	XP_016881630.1:p.Ser348Arg
XM_024451313.1:c.516C>A	XP_024307081.1:p.Ser172Arg
XR_001753582.1:n.1508C>A
NM_005858.4:c.1266C>A MANE Select	NP_005849.1:p.Ser422Arg