Canonical Allele Identifier: CA404499201

Gene: AKAP8

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15362148T>G , CM000681.2:g.15362148T>G	GRCh38
NC_000019.9:g.15472959T>G , CM000681.1:g.15472959T>G	GRCh37
NC_000019.8:g.15333959T>G	NCBI36
NG_046946.1:g.22681A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269701.7:c.1264A>C MANE Select	ENSP00000269701.1:p.Ser422Arg
ENST00000598597.7:c.*327A>C	ENSP00000469908.3:n.*327A>C
ENST00000599883.2:c.*327A>C	ENSP00000468902.2:n.*327A>C
ENST00000679798.1:n.1560A>C
ENST00000680199.1:n.340A>C
ENST00000680245.1:c.1225A>C	ENSP00000504982.1:p.Ser409Arg
ENST00000680336.1:n.1981A>C
ENST00000680461.1:c.*582A>C	ENSP00000506081.1:n.*582A>C
ENST00000681018.1:n.1866A>C
ENST00000681812.1:c.*162A>C	ENSP00000506597.1:n.*162A>C
ENST00000269701.6:c.1264A>C	ENSP00000269701.1:p.Ser422Arg
ENST00000537303.5:n.962A>C
ENST00000598597.6:c.862A>C
NM_005858.3:c.1264A>C	NP_005849.1:p.Ser422Arg
XM_011527624.1:c.964A>C	XP_011525926.1:p.Ser322Arg
XM_011527625.1:c.706A>C	XP_011525927.1:p.Ser236Arg
XR_244062.3:n.1519A>C
XM_011527624.3:c.964A>C	XP_011525926.1:p.Ser322Arg
XM_017026141.2:c.1042A>C	XP_016881630.1:p.Ser348Arg
XM_024451313.1:c.514A>C	XP_024307081.1:p.Ser172Arg
XR_001753582.1:n.1506A>C
NM_005858.4:c.1264A>C MANE Select	NP_005849.1:p.Ser422Arg