Canonical Allele Identifier: CA7241977

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68877148G>A , CM000676.2:g.68877148G>A	GRCh38
NC_000014.8:g.69343865G>A , CM000676.1:g.69343865G>A	GRCh37
NC_000014.7:g.68413618G>A	NCBI36
NG_029480.1:g.107219C>T , LRG_886:g.107219C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.1952C>T
ENST00000682130.1:n.3761C>T
ENST00000682291.1:c.2517C>T	ENSP00000507093.1:p.Arg839=
ENST00000682298.1:n.4110C>T
ENST00000682331.1:c.2256C>T	ENSP00000508329.1:p.Arg752=
ENST00000682378.1:n.4490C>T
ENST00000682381.1:n.4025C>T
ENST00000682522.1:n.2409C>T
ENST00000682559.1:c.*1973C>T	ENSP00000507271.1:n.*1973C>T
ENST00000683069.1:n.3856C>T
ENST00000683198.1:c.2544C>T	ENSP00000507889.1:p.Arg848=
ENST00000683225.1:c.2244C>T	ENSP00000506977.1:p.Arg748=
ENST00000683267.1:c.*1732C>T	ENSP00000508356.1:n.*1732C>T
ENST00000683342.1:c.2520C>T	ENSP00000508301.1:p.Arg840=
ENST00000683780.1:n.3366C>T
ENST00000684146.1:n.3273C>T
ENST00000684182.1:c.2259C>T	ENSP00000508177.1:p.Arg753=
ENST00000684287.1:n.1786C>T
ENST00000684340.1:n.3944C>T
ENST00000684598.1:c.2436C>T	ENSP00000507785.1:p.Arg812=
ENST00000684638.1:c.*1798C>T	ENSP00000507609.1:n.*1798C>T
ENST00000684639.1:c.2400C>T	ENSP00000507653.1:p.Arg800=
ENST00000684713.1:c.2427C>T	ENSP00000507155.1:p.Arg809=
ENST00000394419.9:c.2520C>T MANE Select	ENSP00000377941.4:p.Arg840=
ENST00000679147.1:c.2463C>T	ENSP00000504355.1:p.Arg821=
ENST00000193403.10:c.2454C>T	ENSP00000193403.6:p.Arg818=
ENST00000376839.7:c.2244C>T	ENSP00000366035.3:p.Arg748=
ENST00000394419.8:c.2520C>T	ENSP00000377941.4:p.Arg840=
ENST00000438964.6:c.2439C>T	ENSP00000414272.2:p.Arg813=
ENST00000538545.6:c.2439C>T	ENSP00000439828.2:p.Arg813=
ENST00000553882.1:n.1875C>T
ENST00000555075.5:c.530C>T
ENST00000556083.1:n.3908C>T
NM_001102.3:c.2454C>T	NP_001093.1:p.Arg818=
NM_001130004.1:c.2520C>T , LRG_886t1:c.2520C>T	NP_001123476.1:p.Arg840=
NM_001130005.1:c.2439C>T	NP_001123477.1:p.Arg813=
XM_011537265.1:c.2565C>T	XP_011535567.1:p.Arg855=
XM_011537266.1:c.2550C>T	XP_011535568.1:p.Arg850=
XM_011537267.1:c.2541C>T	XP_011535569.1:p.Arg847=
XM_011537268.1:c.2526C>T	XP_011535570.1:p.Arg842=
XM_011537269.1:c.2478C>T	XP_011535571.1:p.Arg826=
XM_011537270.1:c.2415C>T	XP_011535572.1:p.Arg805=
XM_011537271.1:c.2391C>T	XP_011535573.1:p.Arg797=
XM_011537265.2:c.2565C>T	XP_011535567.1:p.Arg855=
XM_011537266.3:c.2550C>T	XP_011535568.1:p.Arg850=
XM_011537267.3:c.2541C>T	XP_011535569.1:p.Arg847=
XM_011537268.3:c.2526C>T	XP_011535570.1:p.Arg842=
XM_017021720.1:c.3096C>T	XP_016877209.1:p.Arg1032=
XM_017021721.2:c.3072C>T	XP_016877210.1:p.Arg1024=
XM_017021722.2:c.3009C>T	XP_016877211.1:p.Arg1003=
XM_017021723.2:c.2985C>T	XP_016877212.1:p.Arg995=
XM_017021725.1:c.2946C>T	XP_016877214.1:p.Arg982=
XM_017021726.2:c.2922C>T	XP_016877215.1:p.Arg974=
XM_017021727.2:c.2463C>T	XP_016877216.1:p.Arg821=
XM_017021728.2:c.2376C>T	XP_016877217.1:p.Arg792=
NM_001102.4:c.2454C>T	NP_001093.1:p.Arg818=
NM_001130005.2:c.2439C>T	NP_001123477.1:p.Arg813=
NM_001130004.2:c.2520C>T MANE Select	NP_001123476.1:p.Arg840=