Canonical Allele Identifier: CA7241902

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68874990G>A , CM000676.2:g.68874990G>A	GRCh38
NC_000014.8:g.69341707G>A , CM000676.1:g.69341707G>A	GRCh37
NC_000014.7:g.68411460G>A	NCBI36
NG_029480.1:g.109377C>T , LRG_886:g.109377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.2046C>T
ENST00000682130.1:n.3855C>T
ENST00000682291.1:c.2611C>T	ENSP00000507093.1:p.Arg871Cys
ENST00000682298.1:n.4204C>T
ENST00000682331.1:c.2350C>T	ENSP00000508329.1:p.Arg784Cys
ENST00000682378.1:n.4584C>T
ENST00000682381.1:n.4119C>T
ENST00000682522.1:n.2503C>T
ENST00000682559.1:c.*2067C>T	ENSP00000507271.1:n.*2067C>T
ENST00000683069.1:n.3950C>T
ENST00000683198.1:c.2638C>T	ENSP00000507889.1:p.Arg880Cys
ENST00000683225.1:c.2338C>T	ENSP00000506977.1:p.Arg780Cys
ENST00000683267.1:c.*1826C>T	ENSP00000508356.1:n.*1826C>T
ENST00000683780.1:n.3460C>T
ENST00000684146.1:n.3367C>T
ENST00000684182.1:c.2353C>T	ENSP00000508177.1:p.Arg785Cys
ENST00000684287.1:n.1880C>T
ENST00000684340.1:n.4038C>T
ENST00000684598.1:c.2530C>T	ENSP00000507785.1:p.Arg844Cys
ENST00000684638.1:c.*1892C>T	ENSP00000507609.1:n.*1892C>T
ENST00000684639.1:c.2494C>T	ENSP00000507653.1:p.Arg832Cys
ENST00000684713.1:c.2521C>T	ENSP00000507155.1:p.Arg841Cys
ENST00000394419.9:c.2614C>T MANE Select	ENSP00000377941.4:p.Arg872Cys
ENST00000679147.1:c.2557C>T	ENSP00000504355.1:p.Arg853Cys
ENST00000193403.10:c.2548C>T	ENSP00000193403.6:p.Arg850Cys
ENST00000376839.7:c.2338C>T	ENSP00000366035.3:p.Arg780Cys
ENST00000394419.8:c.2614C>T	ENSP00000377941.4:p.Arg872Cys
ENST00000438964.6:c.2533C>T	ENSP00000414272.2:p.Arg845Cys
ENST00000538545.6:c.2662C>T	ENSP00000439828.2:p.Arg888Cys
ENST00000553882.1:n.1969C>T
ENST00000555075.5:c.624C>T
ENST00000556083.1:n.4002C>T
NM_001102.3:c.2548C>T	NP_001093.1:p.Arg850Cys
NM_001130004.1:c.2614C>T , LRG_886t1:c.2614C>T	NP_001123476.1:p.Arg872Cys
NM_001130005.1:c.2533C>T	NP_001123477.1:p.Arg845Cys
XM_011537265.1:c.2659C>T	XP_011535567.1:p.Arg887Cys
XM_011537266.1:c.2644C>T	XP_011535568.1:p.Arg882Cys
XM_011537267.1:c.2635C>T	XP_011535569.1:p.Arg879Cys
XM_011537268.1:c.2620C>T	XP_011535570.1:p.Arg874Cys
XM_011537269.1:c.2572C>T	XP_011535571.1:p.Arg858Cys
XM_011537270.1:c.2509C>T	XP_011535572.1:p.Arg837Cys
XM_011537271.1:c.2485C>T	XP_011535573.1:p.Arg829Cys
XM_011537265.2:c.2659C>T	XP_011535567.1:p.Arg887Cys
XM_011537266.3:c.2644C>T	XP_011535568.1:p.Arg882Cys
XM_011537267.3:c.2635C>T	XP_011535569.1:p.Arg879Cys
XM_011537268.3:c.2620C>T	XP_011535570.1:p.Arg874Cys
XM_017021720.1:c.3190C>T	XP_016877209.1:p.Arg1064Cys
XM_017021721.2:c.3166C>T	XP_016877210.1:p.Arg1056Cys
XM_017021722.2:c.3103C>T	XP_016877211.1:p.Arg1035Cys
XM_017021723.2:c.3079C>T	XP_016877212.1:p.Arg1027Cys
XM_017021725.1:c.3040C>T	XP_016877214.1:p.Arg1014Cys
XM_017021726.2:c.3016C>T	XP_016877215.1:p.Arg1006Cys
XM_017021727.2:c.2557C>T	XP_016877216.1:p.Arg853Cys
XM_017021728.2:c.2470C>T	XP_016877217.1:p.Arg824Cys
NM_001102.4:c.2548C>T	NP_001093.1:p.Arg850Cys
NM_001130005.2:c.2533C>T	NP_001123477.1:p.Arg845Cys
NM_001130004.2:c.2614C>T MANE Select	NP_001123476.1:p.Arg872Cys