Canonical Allele Identifier: CA9266157

Gene: AKAP8

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15370139T>G , CM000681.2:g.15370139T>G	GRCh38
NC_000019.9:g.15480950T>G , CM000681.1:g.15480950T>G	GRCh37
NC_000019.8:g.15341950T>G	NCBI36
NG_046946.1:g.14690A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269701.7:c.1072+7A>C MANE Select	ENSP00000269701.1:n.1072+7A>C
ENST00000598597.7:c.1072+7A>C	ENSP00000469908.3:n.1072+7A>C
ENST00000599883.2:c.1072+7A>C	ENSP00000468902.2:n.1072+7A>C
ENST00000679798.1:n.1368+7A>C
ENST00000680245.1:c.1033+7A>C	ENSP00000504982.1:n.1033+7A>C
ENST00000680336.1:n.1631+7A>C
ENST00000680461.1:c.*390+7A>C	ENSP00000506081.1:n.*390+7A>C
ENST00000681018.1:n.1674+7A>C
ENST00000681812.1:c.1072+7A>C	ENSP00000506597.1:n.1072+7A>C
ENST00000269701.6:c.1072+7A>C	ENSP00000269701.1:n.1072+7A>C
ENST00000537303.5:n.770+7A>C
ENST00000598597.6:c.512+7A>C
NM_005858.3:c.1072+7A>C	NP_005849.1:n.1072+7A>C
XM_011527624.1:c.772+7A>C	XP_011525926.1:n.772+7A>C
XM_011527625.1:c.514+7A>C	XP_011525927.1:n.514+7A>C
XR_244062.3:n.1169+7A>C
XM_011527624.3:c.772+7A>C	XP_011525926.1:n.772+7A>C
XM_017026141.2:c.850+7A>C	XP_016881630.1:n.850+7A>C
XM_024451313.1:c.-581+7A>C	XP_024307081.1:n.-581+7A>C
XR_001753582.1:n.1156+7A>C
NM_005858.4:c.1072+7A>C MANE Select	NP_005849.1:n.1072+7A>C