Canonical Allele Identifier: CA390179254

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68874999C>T , CM000676.2:g.68874999C>T	GRCh38
NC_000014.8:g.69341716C>T , CM000676.1:g.69341716C>T	GRCh37
NC_000014.7:g.68411469C>T	NCBI36
NG_029480.1:g.109368G>A , LRG_886:g.109368G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.2037G>A
ENST00000682130.1:n.3846G>A
ENST00000682291.1:c.2602G>A	ENSP00000507093.1:p.Glu868Lys
ENST00000682298.1:n.4195G>A
ENST00000682331.1:c.2341G>A	ENSP00000508329.1:p.Glu781Lys
ENST00000682378.1:n.4575G>A
ENST00000682381.1:n.4110G>A
ENST00000682522.1:n.2494G>A
ENST00000682559.1:c.*2058G>A	ENSP00000507271.1:n.*2058G>A
ENST00000683069.1:n.3941G>A
ENST00000683198.1:c.2629G>A	ENSP00000507889.1:p.Glu877Lys
ENST00000683225.1:c.2329G>A	ENSP00000506977.1:p.Glu777Lys
ENST00000683267.1:c.*1817G>A	ENSP00000508356.1:n.*1817G>A
ENST00000683780.1:n.3451G>A
ENST00000684146.1:n.3358G>A
ENST00000684182.1:c.2344G>A	ENSP00000508177.1:p.Glu782Lys
ENST00000684287.1:n.1871G>A
ENST00000684340.1:n.4029G>A
ENST00000684598.1:c.2521G>A	ENSP00000507785.1:p.Glu841Lys
ENST00000684638.1:c.*1883G>A	ENSP00000507609.1:n.*1883G>A
ENST00000684639.1:c.2485G>A	ENSP00000507653.1:p.Glu829Lys
ENST00000684713.1:c.2512G>A	ENSP00000507155.1:p.Glu838Lys
ENST00000394419.9:c.2605G>A MANE Select	ENSP00000377941.4:p.Glu869Lys
ENST00000679147.1:c.2548G>A	ENSP00000504355.1:p.Glu850Lys
ENST00000193403.10:c.2539G>A	ENSP00000193403.6:p.Glu847Lys
ENST00000376839.7:c.2329G>A	ENSP00000366035.3:p.Glu777Lys
ENST00000394419.8:c.2605G>A	ENSP00000377941.4:p.Glu869Lys
ENST00000438964.6:c.2524G>A	ENSP00000414272.2:p.Glu842Lys
ENST00000538545.6:c.2653G>A	ENSP00000439828.2:p.Glu885Lys
ENST00000553882.1:n.1960G>A
ENST00000555075.5:c.615G>A
ENST00000556083.1:n.3993G>A
NM_001102.3:c.2539G>A	NP_001093.1:p.Glu847Lys
NM_001130004.1:c.2605G>A , LRG_886t1:c.2605G>A	NP_001123476.1:p.Glu869Lys
NM_001130005.1:c.2524G>A	NP_001123477.1:p.Glu842Lys
XM_011537265.1:c.2650G>A	XP_011535567.1:p.Glu884Lys
XM_011537266.1:c.2635G>A	XP_011535568.1:p.Glu879Lys
XM_011537267.1:c.2626G>A	XP_011535569.1:p.Glu876Lys
XM_011537268.1:c.2611G>A	XP_011535570.1:p.Glu871Lys
XM_011537269.1:c.2563G>A	XP_011535571.1:p.Glu855Lys
XM_011537270.1:c.2500G>A	XP_011535572.1:p.Glu834Lys
XM_011537271.1:c.2476G>A	XP_011535573.1:p.Glu826Lys
XM_011537265.2:c.2650G>A	XP_011535567.1:p.Glu884Lys
XM_011537266.3:c.2635G>A	XP_011535568.1:p.Glu879Lys
XM_011537267.3:c.2626G>A	XP_011535569.1:p.Glu876Lys
XM_011537268.3:c.2611G>A	XP_011535570.1:p.Glu871Lys
XM_017021720.1:c.3181G>A	XP_016877209.1:p.Glu1061Lys
XM_017021721.2:c.3157G>A	XP_016877210.1:p.Glu1053Lys
XM_017021722.2:c.3094G>A	XP_016877211.1:p.Glu1032Lys
XM_017021723.2:c.3070G>A	XP_016877212.1:p.Glu1024Lys
XM_017021725.1:c.3031G>A	XP_016877214.1:p.Glu1011Lys
XM_017021726.2:c.3007G>A	XP_016877215.1:p.Glu1003Lys
XM_017021727.2:c.2548G>A	XP_016877216.1:p.Glu850Lys
XM_017021728.2:c.2461G>A	XP_016877217.1:p.Glu821Lys
NM_001102.4:c.2539G>A	NP_001093.1:p.Glu847Lys
NM_001130005.2:c.2524G>A	NP_001123477.1:p.Glu842Lys
NM_001130004.2:c.2605G>A MANE Select	NP_001123476.1:p.Glu869Lys