Canonical Allele Identifier: CA404506894

Gene: AKAP8

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15372892C>G , CM000681.2:g.15372892C>G	GRCh38
NC_000019.9:g.15483703C>G , CM000681.1:g.15483703C>G	GRCh37
NC_000019.8:g.15344703C>G	NCBI36
NG_046946.1:g.11937G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269701.7:c.820G>C MANE Select	ENSP00000269701.1:p.Gly274Arg
ENST00000598597.7:c.820G>C	ENSP00000469908.3:p.Gly274Arg
ENST00000599883.2:c.820G>C	ENSP00000468902.2:p.Gly274Arg
ENST00000679798.1:n.1116G>C
ENST00000680245.1:c.781G>C	ENSP00000504982.1:p.Gly261Arg
ENST00000680336.1:n.876G>C
ENST00000680461.1:c.*138G>C	ENSP00000506081.1:n.*138G>C
ENST00000681018.1:n.1422G>C
ENST00000681812.1:c.820G>C	ENSP00000506597.1:p.Gly274Arg
ENST00000269701.6:c.820G>C	ENSP00000269701.1:p.Gly274Arg
ENST00000537303.5:n.518G>C
ENST00000598597.6:c.260G>C
ENST00000599883.1:c.*138G>C	ENSP00000468902.1:n.*138G>C
NM_005858.3:c.820G>C	NP_005849.1:p.Gly274Arg
XM_011527624.1:c.520G>C	XP_011525926.1:p.Gly174Arg
XM_011527625.1:c.262G>C	XP_011525927.1:p.Gly88Arg
XR_244062.3:n.917G>C
XM_011527624.3:c.520G>C	XP_011525926.1:p.Gly174Arg
XM_017026141.2:c.598G>C	XP_016881630.1:p.Gly200Arg
XR_001753582.1:n.904G>C
NM_005858.4:c.820G>C MANE Select	NP_005849.1:p.Gly274Arg