Canonical Allele Identifier: CA404495295

Gene: AKAP8

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15355243G>T , CM000681.2:g.15355243G>T	GRCh38
NC_000019.9:g.15466054G>T , CM000681.1:g.15466054G>T	GRCh37
NC_000019.8:g.15327054G>T	NCBI36
NG_046946.1:g.29586C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005858.4:c.1751C>A MANE Select	NP_005849.1:p.Ala584Glu
ENST00000269701.7:c.1751C>A MANE Select	ENSP00000269701.1:p.Ala584Glu
NM_005858.3:c.1751C>A	NP_005849.1:p.Ala584Glu
ENST00000269701.6:c.1751C>A	ENSP00000269701.1:p.Ala584Glu
ENST00000598597.6:c.1349C>A
ENST00000598597.7:c.*814C>A	ENSP00000469908.3:n.*814C>A
ENST00000679798.1:n.2047C>A
ENST00000680199.1:n.827C>A
ENST00000680245.1:c.1712C>A	ENSP00000504982.1:p.Ala571Glu
ENST00000680336.1:n.2468C>A
ENST00000680461.1:c.*1069C>A	ENSP00000506081.1:n.*1069C>A
ENST00000681018.1:n.2353C>A
ENST00000681812.1:c.*649C>A	ENSP00000506597.1:n.*649C>A
XM_011527624.1:c.1451C>A	XP_011525926.1:p.Ala484Glu
XM_011527624.3:c.1451C>A	XP_011525926.1:p.Ala484Glu
XM_011527625.1:c.1193C>A	XP_011525927.1:p.Ala398Glu
XM_017026141.2:c.1529C>A	XP_016881630.1:p.Ala510Glu
XM_024451313.1:c.1001C>A	XP_024307081.1:p.Ala334Glu
XR_001753582.1:n.1993C>A