Canonical Allele Identifier: CA9266292

Gene: AKAP8

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15372852C>T , CM000681.2:g.15372852C>T	GRCh38
NC_000019.9:g.15483663C>T , CM000681.1:g.15483663C>T	GRCh37
NC_000019.8:g.15344663C>T	NCBI36
NG_046946.1:g.11977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269701.7:c.860G>A MANE Select	ENSP00000269701.1:p.Arg287Gln
ENST00000598597.7:c.860G>A	ENSP00000469908.3:p.Arg287Gln
ENST00000599883.2:c.860G>A	ENSP00000468902.2:p.Arg287Gln
ENST00000679798.1:n.1156G>A
ENST00000680245.1:c.821G>A	ENSP00000504982.1:p.Arg274Gln
ENST00000680336.1:n.916G>A
ENST00000680461.1:c.*178G>A	ENSP00000506081.1:n.*178G>A
ENST00000681018.1:n.1462G>A
ENST00000681812.1:c.860G>A	ENSP00000506597.1:p.Arg287Gln
ENST00000269701.6:c.860G>A	ENSP00000269701.1:p.Arg287Gln
ENST00000537303.5:n.558G>A
ENST00000598597.6:c.300G>A
ENST00000599883.1:c.*178G>A	ENSP00000468902.1:n.*178G>A
NM_005858.3:c.860G>A	NP_005849.1:p.Arg287Gln
XM_011527624.1:c.560G>A	XP_011525926.1:p.Arg187Gln
XM_011527625.1:c.302G>A	XP_011525927.1:p.Arg101Gln
XR_244062.3:n.957G>A
XM_011527624.3:c.560G>A	XP_011525926.1:p.Arg187Gln
XM_017026141.2:c.638G>A	XP_016881630.1:p.Arg213Gln
XR_001753582.1:n.944G>A
NM_005858.4:c.860G>A MANE Select	NP_005849.1:p.Arg287Gln