Canonical Allele Identifier: CA7241982

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68877194C>T , CM000676.2:g.68877194C>T	GRCh38
NC_000014.8:g.69343911C>T , CM000676.1:g.69343911C>T	GRCh37
NC_000014.7:g.68413664C>T	NCBI36
NG_029480.1:g.107173G>A , LRG_886:g.107173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.1906G>A
ENST00000682130.1:n.3715G>A
ENST00000682291.1:c.2471G>A	ENSP00000507093.1:p.Arg824His
ENST00000682298.1:n.4064G>A
ENST00000682331.1:c.2210G>A	ENSP00000508329.1:p.Arg737His
ENST00000682378.1:n.4444G>A
ENST00000682381.1:n.3979G>A
ENST00000682522.1:n.2363G>A
ENST00000682559.1:c.*1927G>A	ENSP00000507271.1:n.*1927G>A
ENST00000683069.1:n.3810G>A
ENST00000683198.1:c.2498G>A	ENSP00000507889.1:p.Arg833His
ENST00000683225.1:c.2198G>A	ENSP00000506977.1:p.Arg733His
ENST00000683267.1:c.*1686G>A	ENSP00000508356.1:n.*1686G>A
ENST00000683342.1:c.2474G>A	ENSP00000508301.1:p.Arg825His
ENST00000683780.1:n.3320G>A
ENST00000684146.1:n.3227G>A
ENST00000684182.1:c.2213G>A	ENSP00000508177.1:p.Arg738His
ENST00000684287.1:n.1740G>A
ENST00000684340.1:n.3898G>A
ENST00000684598.1:c.2390G>A	ENSP00000507785.1:p.Arg797His
ENST00000684638.1:c.*1752G>A	ENSP00000507609.1:n.*1752G>A
ENST00000684639.1:c.2354G>A	ENSP00000507653.1:p.Arg785His
ENST00000684713.1:c.2381G>A	ENSP00000507155.1:p.Arg794His
ENST00000394419.9:c.2474G>A MANE Select	ENSP00000377941.4:p.Arg825His
ENST00000679147.1:c.2417G>A	ENSP00000504355.1:p.Arg806His
ENST00000193403.10:c.2408G>A	ENSP00000193403.6:p.Arg803His
ENST00000376839.7:c.2198G>A	ENSP00000366035.3:p.Arg733His
ENST00000394419.8:c.2474G>A	ENSP00000377941.4:p.Arg825His
ENST00000438964.6:c.2393G>A	ENSP00000414272.2:p.Arg798His
ENST00000538545.6:c.2393G>A	ENSP00000439828.2:p.Arg798His
ENST00000553882.1:n.1829G>A
ENST00000555075.5:c.484G>A
ENST00000556083.1:n.3862G>A
NM_001102.3:c.2408G>A	NP_001093.1:p.Arg803His
NM_001130004.1:c.2474G>A , LRG_886t1:c.2474G>A	NP_001123476.1:p.Arg825His
NM_001130005.1:c.2393G>A	NP_001123477.1:p.Arg798His
XM_011537265.1:c.2519G>A	XP_011535567.1:p.Arg840His
XM_011537266.1:c.2504G>A	XP_011535568.1:p.Arg835His
XM_011537267.1:c.2495G>A	XP_011535569.1:p.Arg832His
XM_011537268.1:c.2480G>A	XP_011535570.1:p.Arg827His
XM_011537269.1:c.2432G>A	XP_011535571.1:p.Arg811His
XM_011537270.1:c.2369G>A	XP_011535572.1:p.Arg790His
XM_011537271.1:c.2345G>A	XP_011535573.1:p.Arg782His
XM_011537265.2:c.2519G>A	XP_011535567.1:p.Arg840His
XM_011537266.3:c.2504G>A	XP_011535568.1:p.Arg835His
XM_011537267.3:c.2495G>A	XP_011535569.1:p.Arg832His
XM_011537268.3:c.2480G>A	XP_011535570.1:p.Arg827His
XM_017021720.1:c.3050G>A	XP_016877209.1:p.Arg1017His
XM_017021721.2:c.3026G>A	XP_016877210.1:p.Arg1009His
XM_017021722.2:c.2963G>A	XP_016877211.1:p.Arg988His
XM_017021723.2:c.2939G>A	XP_016877212.1:p.Arg980His
XM_017021725.1:c.2900G>A	XP_016877214.1:p.Arg967His
XM_017021726.2:c.2876G>A	XP_016877215.1:p.Arg959His
XM_017021727.2:c.2417G>A	XP_016877216.1:p.Arg806His
XM_017021728.2:c.2330G>A	XP_016877217.1:p.Arg777His
NM_001102.4:c.2408G>A	NP_001093.1:p.Arg803His
NM_001130005.2:c.2393G>A	NP_001123477.1:p.Arg798His
NM_001130004.2:c.2474G>A MANE Select	NP_001123476.1:p.Arg825His