Canonical Allele Identifier: CA7241906

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68874993G>A , CM000676.2:g.68874993G>A	GRCh38
NC_000014.8:g.69341710G>A , CM000676.1:g.69341710G>A	GRCh37
NC_000014.7:g.68411463G>A	NCBI36
NG_029480.1:g.109374C>T , LRG_886:g.109374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.2043C>T
ENST00000682130.1:n.3852C>T
ENST00000682291.1:c.2608C>T	ENSP00000507093.1:p.Arg870Cys
ENST00000682298.1:n.4201C>T
ENST00000682331.1:c.2347C>T	ENSP00000508329.1:p.Arg783Cys
ENST00000682378.1:n.4581C>T
ENST00000682381.1:n.4116C>T
ENST00000682522.1:n.2500C>T
ENST00000682559.1:c.*2064C>T	ENSP00000507271.1:n.*2064C>T
ENST00000683069.1:n.3947C>T
ENST00000683198.1:c.2635C>T	ENSP00000507889.1:p.Arg879Cys
ENST00000683225.1:c.2335C>T	ENSP00000506977.1:p.Arg779Cys
ENST00000683267.1:c.*1823C>T	ENSP00000508356.1:n.*1823C>T
ENST00000683780.1:n.3457C>T
ENST00000684146.1:n.3364C>T
ENST00000684182.1:c.2350C>T	ENSP00000508177.1:p.Arg784Cys
ENST00000684287.1:n.1877C>T
ENST00000684340.1:n.4035C>T
ENST00000684598.1:c.2527C>T	ENSP00000507785.1:p.Arg843Cys
ENST00000684638.1:c.*1889C>T	ENSP00000507609.1:n.*1889C>T
ENST00000684639.1:c.2491C>T	ENSP00000507653.1:p.Arg831Cys
ENST00000684713.1:c.2518C>T	ENSP00000507155.1:p.Arg840Cys
ENST00000394419.9:c.2611C>T MANE Select	ENSP00000377941.4:p.Arg871Cys
ENST00000679147.1:c.2554C>T	ENSP00000504355.1:p.Arg852Cys
ENST00000193403.10:c.2545C>T	ENSP00000193403.6:p.Arg849Cys
ENST00000376839.7:c.2335C>T	ENSP00000366035.3:p.Arg779Cys
ENST00000394419.8:c.2611C>T	ENSP00000377941.4:p.Arg871Cys
ENST00000438964.6:c.2530C>T	ENSP00000414272.2:p.Arg844Cys
ENST00000538545.6:c.2659C>T	ENSP00000439828.2:p.Arg887Cys
ENST00000553882.1:n.1966C>T
ENST00000555075.5:c.621C>T
ENST00000556083.1:n.3999C>T
NM_001102.3:c.2545C>T	NP_001093.1:p.Arg849Cys
NM_001130004.1:c.2611C>T , LRG_886t1:c.2611C>T	NP_001123476.1:p.Arg871Cys
NM_001130005.1:c.2530C>T	NP_001123477.1:p.Arg844Cys
XM_011537265.1:c.2656C>T	XP_011535567.1:p.Arg886Cys
XM_011537266.1:c.2641C>T	XP_011535568.1:p.Arg881Cys
XM_011537267.1:c.2632C>T	XP_011535569.1:p.Arg878Cys
XM_011537268.1:c.2617C>T	XP_011535570.1:p.Arg873Cys
XM_011537269.1:c.2569C>T	XP_011535571.1:p.Arg857Cys
XM_011537270.1:c.2506C>T	XP_011535572.1:p.Arg836Cys
XM_011537271.1:c.2482C>T	XP_011535573.1:p.Arg828Cys
XM_011537265.2:c.2656C>T	XP_011535567.1:p.Arg886Cys
XM_011537266.3:c.2641C>T	XP_011535568.1:p.Arg881Cys
XM_011537267.3:c.2632C>T	XP_011535569.1:p.Arg878Cys
XM_011537268.3:c.2617C>T	XP_011535570.1:p.Arg873Cys
XM_017021720.1:c.3187C>T	XP_016877209.1:p.Arg1063Cys
XM_017021721.2:c.3163C>T	XP_016877210.1:p.Arg1055Cys
XM_017021722.2:c.3100C>T	XP_016877211.1:p.Arg1034Cys
XM_017021723.2:c.3076C>T	XP_016877212.1:p.Arg1026Cys
XM_017021725.1:c.3037C>T	XP_016877214.1:p.Arg1013Cys
XM_017021726.2:c.3013C>T	XP_016877215.1:p.Arg1005Cys
XM_017021727.2:c.2554C>T	XP_016877216.1:p.Arg852Cys
XM_017021728.2:c.2467C>T	XP_016877217.1:p.Arg823Cys
NM_001102.4:c.2545C>T	NP_001093.1:p.Arg849Cys
NM_001130005.2:c.2530C>T	NP_001123477.1:p.Arg844Cys
NM_001130004.2:c.2611C>T MANE Select	NP_001123476.1:p.Arg871Cys