Canonical Allele Identifier: CA16606576

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68877195G>A , CM000676.2:g.68877195G>A	GRCh38
NC_000014.8:g.69343912G>A , CM000676.1:g.69343912G>A	GRCh37
NC_000014.7:g.68413665G>A	NCBI36
NG_029480.1:g.107172C>T , LRG_886:g.107172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.1905C>T
ENST00000682130.1:n.3714C>T
ENST00000682291.1:c.2470C>T	ENSP00000507093.1:p.Arg824Cys
ENST00000682298.1:n.4063C>T
ENST00000682331.1:c.2209C>T	ENSP00000508329.1:p.Arg737Cys
ENST00000682378.1:n.4443C>T
ENST00000682381.1:n.3978C>T
ENST00000682522.1:n.2362C>T
ENST00000682559.1:c.*1926C>T	ENSP00000507271.1:n.*1926C>T
ENST00000683069.1:n.3809C>T
ENST00000683198.1:c.2497C>T	ENSP00000507889.1:p.Arg833Cys
ENST00000683225.1:c.2197C>T	ENSP00000506977.1:p.Arg733Cys
ENST00000683267.1:c.*1685C>T	ENSP00000508356.1:n.*1685C>T
ENST00000683342.1:c.2473C>T	ENSP00000508301.1:p.Arg825Cys
ENST00000683780.1:n.3319C>T
ENST00000684146.1:n.3226C>T
ENST00000684182.1:c.2212C>T	ENSP00000508177.1:p.Arg738Cys
ENST00000684287.1:n.1739C>T
ENST00000684340.1:n.3897C>T
ENST00000684598.1:c.2389C>T	ENSP00000507785.1:p.Arg797Cys
ENST00000684638.1:c.*1751C>T	ENSP00000507609.1:n.*1751C>T
ENST00000684639.1:c.2353C>T	ENSP00000507653.1:p.Arg785Cys
ENST00000684713.1:c.2380C>T	ENSP00000507155.1:p.Arg794Cys
ENST00000394419.9:c.2473C>T MANE Select	ENSP00000377941.4:p.Arg825Cys
ENST00000679147.1:c.2416C>T	ENSP00000504355.1:p.Arg806Cys
ENST00000193403.10:c.2407C>T	ENSP00000193403.6:p.Arg803Cys
ENST00000376839.7:c.2197C>T	ENSP00000366035.3:p.Arg733Cys
ENST00000394419.8:c.2473C>T	ENSP00000377941.4:p.Arg825Cys
ENST00000438964.6:c.2392C>T	ENSP00000414272.2:p.Arg798Cys
ENST00000538545.6:c.2392C>T	ENSP00000439828.2:p.Arg798Cys
ENST00000553882.1:n.1828C>T
ENST00000555075.5:c.483C>T
ENST00000556083.1:n.3861C>T
NM_001102.3:c.2407C>T	NP_001093.1:p.Arg803Cys
NM_001130004.1:c.2473C>T , LRG_886t1:c.2473C>T	NP_001123476.1:p.Arg825Cys
NM_001130005.1:c.2392C>T	NP_001123477.1:p.Arg798Cys
XM_011537265.1:c.2518C>T	XP_011535567.1:p.Arg840Cys
XM_011537266.1:c.2503C>T	XP_011535568.1:p.Arg835Cys
XM_011537267.1:c.2494C>T	XP_011535569.1:p.Arg832Cys
XM_011537268.1:c.2479C>T	XP_011535570.1:p.Arg827Cys
XM_011537269.1:c.2431C>T	XP_011535571.1:p.Arg811Cys
XM_011537270.1:c.2368C>T	XP_011535572.1:p.Arg790Cys
XM_011537271.1:c.2344C>T	XP_011535573.1:p.Arg782Cys
XM_011537265.2:c.2518C>T	XP_011535567.1:p.Arg840Cys
XM_011537266.3:c.2503C>T	XP_011535568.1:p.Arg835Cys
XM_011537267.3:c.2494C>T	XP_011535569.1:p.Arg832Cys
XM_011537268.3:c.2479C>T	XP_011535570.1:p.Arg827Cys
XM_017021720.1:c.3049C>T	XP_016877209.1:p.Arg1017Cys
XM_017021721.2:c.3025C>T	XP_016877210.1:p.Arg1009Cys
XM_017021722.2:c.2962C>T	XP_016877211.1:p.Arg988Cys
XM_017021723.2:c.2938C>T	XP_016877212.1:p.Arg980Cys
XM_017021725.1:c.2899C>T	XP_016877214.1:p.Arg967Cys
XM_017021726.2:c.2875C>T	XP_016877215.1:p.Arg959Cys
XM_017021727.2:c.2416C>T	XP_016877216.1:p.Arg806Cys
XM_017021728.2:c.2329C>T	XP_016877217.1:p.Arg777Cys
NM_001102.4:c.2407C>T	NP_001093.1:p.Arg803Cys
NM_001130005.2:c.2392C>T	NP_001123477.1:p.Arg798Cys
NM_001130004.2:c.2473C>T MANE Select	NP_001123476.1:p.Arg825Cys