Canonical Allele Identifier: CA390180370

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68877117C>T , CM000676.2:g.68877117C>T	GRCh38
NC_000014.8:g.69343834C>T , CM000676.1:g.69343834C>T	GRCh37
NC_000014.7:g.68413587C>T	NCBI36
NG_029480.1:g.107250G>A , LRG_886:g.107250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.1983G>A
ENST00000682130.1:n.3792G>A
ENST00000682291.1:c.2548G>A	ENSP00000507093.1:p.Val850Ile
ENST00000682298.1:n.4141G>A
ENST00000682331.1:c.2287G>A	ENSP00000508329.1:p.Val763Ile
ENST00000682378.1:n.4521G>A
ENST00000682381.1:n.4056G>A
ENST00000682522.1:n.2440G>A
ENST00000682559.1:c.*2004G>A	ENSP00000507271.1:n.*2004G>A
ENST00000683069.1:n.3887G>A
ENST00000683198.1:c.2575G>A	ENSP00000507889.1:p.Val859Ile
ENST00000683225.1:c.2275G>A	ENSP00000506977.1:p.Val759Ile
ENST00000683267.1:c.*1763G>A	ENSP00000508356.1:n.*1763G>A
ENST00000683342.1:c.2551G>A	ENSP00000508301.1:p.Val851Ile
ENST00000683780.1:n.3397G>A
ENST00000684146.1:n.3304G>A
ENST00000684182.1:c.2290G>A	ENSP00000508177.1:p.Val764Ile
ENST00000684287.1:n.1817G>A
ENST00000684340.1:n.3975G>A
ENST00000684598.1:c.2467G>A	ENSP00000507785.1:p.Val823Ile
ENST00000684638.1:c.*1829G>A	ENSP00000507609.1:n.*1829G>A
ENST00000684639.1:c.2431G>A	ENSP00000507653.1:p.Val811Ile
ENST00000684713.1:c.2458G>A	ENSP00000507155.1:p.Val820Ile
ENST00000394419.9:c.2551G>A MANE Select	ENSP00000377941.4:p.Val851Ile
ENST00000679147.1:c.2494G>A	ENSP00000504355.1:p.Val832Ile
ENST00000193403.10:c.2485G>A	ENSP00000193403.6:p.Val829Ile
ENST00000376839.7:c.2275G>A	ENSP00000366035.3:p.Val759Ile
ENST00000394419.8:c.2551G>A	ENSP00000377941.4:p.Val851Ile
ENST00000438964.6:c.2470G>A	ENSP00000414272.2:p.Val824Ile
ENST00000538545.6:c.2470G>A	ENSP00000439828.2:p.Val824Ile
ENST00000553882.1:n.1906G>A
ENST00000555075.5:c.561G>A
ENST00000556083.1:n.3939G>A
NM_001102.3:c.2485G>A	NP_001093.1:p.Val829Ile
NM_001130004.1:c.2551G>A , LRG_886t1:c.2551G>A	NP_001123476.1:p.Val851Ile
NM_001130005.1:c.2470G>A	NP_001123477.1:p.Val824Ile
XM_011537265.1:c.2596G>A	XP_011535567.1:p.Val866Ile
XM_011537266.1:c.2581G>A	XP_011535568.1:p.Val861Ile
XM_011537267.1:c.2572G>A	XP_011535569.1:p.Val858Ile
XM_011537268.1:c.2557G>A	XP_011535570.1:p.Val853Ile
XM_011537269.1:c.2509G>A	XP_011535571.1:p.Val837Ile
XM_011537270.1:c.2446G>A	XP_011535572.1:p.Val816Ile
XM_011537271.1:c.2422G>A	XP_011535573.1:p.Val808Ile
XM_011537265.2:c.2596G>A	XP_011535567.1:p.Val866Ile
XM_011537266.3:c.2581G>A	XP_011535568.1:p.Val861Ile
XM_011537267.3:c.2572G>A	XP_011535569.1:p.Val858Ile
XM_011537268.3:c.2557G>A	XP_011535570.1:p.Val853Ile
XM_017021720.1:c.3127G>A	XP_016877209.1:p.Val1043Ile
XM_017021721.2:c.3103G>A	XP_016877210.1:p.Val1035Ile
XM_017021722.2:c.3040G>A	XP_016877211.1:p.Val1014Ile
XM_017021723.2:c.3016G>A	XP_016877212.1:p.Val1006Ile
XM_017021725.1:c.2977G>A	XP_016877214.1:p.Val993Ile
XM_017021726.2:c.2953G>A	XP_016877215.1:p.Val985Ile
XM_017021727.2:c.2494G>A	XP_016877216.1:p.Val832Ile
XM_017021728.2:c.2407G>A	XP_016877217.1:p.Val803Ile
NM_001102.4:c.2485G>A	NP_001093.1:p.Val829Ile
NM_001130005.2:c.2470G>A	NP_001123477.1:p.Val824Ile
NM_001130004.2:c.2551G>A MANE Select	NP_001123476.1:p.Val851Ile