Canonical Allele Identifier: CA7241905

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68874992C>T , CM000676.2:g.68874992C>T	GRCh38
NC_000014.8:g.69341709C>T , CM000676.1:g.69341709C>T	GRCh37
NC_000014.7:g.68411462C>T	NCBI36
NG_029480.1:g.109375G>A , LRG_886:g.109375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.2044G>A
ENST00000682130.1:n.3853G>A
ENST00000682291.1:c.2609G>A	ENSP00000507093.1:p.Arg870His
ENST00000682298.1:n.4202G>A
ENST00000682331.1:c.2348G>A	ENSP00000508329.1:p.Arg783His
ENST00000682378.1:n.4582G>A
ENST00000682381.1:n.4117G>A
ENST00000682522.1:n.2501G>A
ENST00000682559.1:c.*2065G>A	ENSP00000507271.1:n.*2065G>A
ENST00000683069.1:n.3948G>A
ENST00000683198.1:c.2636G>A	ENSP00000507889.1:p.Arg879His
ENST00000683225.1:c.2336G>A	ENSP00000506977.1:p.Arg779His
ENST00000683267.1:c.*1824G>A	ENSP00000508356.1:n.*1824G>A
ENST00000683780.1:n.3458G>A
ENST00000684146.1:n.3365G>A
ENST00000684182.1:c.2351G>A	ENSP00000508177.1:p.Arg784His
ENST00000684287.1:n.1878G>A
ENST00000684340.1:n.4036G>A
ENST00000684598.1:c.2528G>A	ENSP00000507785.1:p.Arg843His
ENST00000684638.1:c.*1890G>A	ENSP00000507609.1:n.*1890G>A
ENST00000684639.1:c.2492G>A	ENSP00000507653.1:p.Arg831His
ENST00000684713.1:c.2519G>A	ENSP00000507155.1:p.Arg840His
ENST00000394419.9:c.2612G>A MANE Select	ENSP00000377941.4:p.Arg871His
ENST00000679147.1:c.2555G>A	ENSP00000504355.1:p.Arg852His
ENST00000193403.10:c.2546G>A	ENSP00000193403.6:p.Arg849His
ENST00000376839.7:c.2336G>A	ENSP00000366035.3:p.Arg779His
ENST00000394419.8:c.2612G>A	ENSP00000377941.4:p.Arg871His
ENST00000438964.6:c.2531G>A	ENSP00000414272.2:p.Arg844His
ENST00000538545.6:c.2660G>A	ENSP00000439828.2:p.Arg887His
ENST00000553882.1:n.1967G>A
ENST00000555075.5:c.622G>A
ENST00000556083.1:n.4000G>A
NM_001102.3:c.2546G>A	NP_001093.1:p.Arg849His
NM_001130004.1:c.2612G>A , LRG_886t1:c.2612G>A	NP_001123476.1:p.Arg871His
NM_001130005.1:c.2531G>A	NP_001123477.1:p.Arg844His
XM_011537265.1:c.2657G>A	XP_011535567.1:p.Arg886His
XM_011537266.1:c.2642G>A	XP_011535568.1:p.Arg881His
XM_011537267.1:c.2633G>A	XP_011535569.1:p.Arg878His
XM_011537268.1:c.2618G>A	XP_011535570.1:p.Arg873His
XM_011537269.1:c.2570G>A	XP_011535571.1:p.Arg857His
XM_011537270.1:c.2507G>A	XP_011535572.1:p.Arg836His
XM_011537271.1:c.2483G>A	XP_011535573.1:p.Arg828His
XM_011537265.2:c.2657G>A	XP_011535567.1:p.Arg886His
XM_011537266.3:c.2642G>A	XP_011535568.1:p.Arg881His
XM_011537267.3:c.2633G>A	XP_011535569.1:p.Arg878His
XM_011537268.3:c.2618G>A	XP_011535570.1:p.Arg873His
XM_017021720.1:c.3188G>A	XP_016877209.1:p.Arg1063His
XM_017021721.2:c.3164G>A	XP_016877210.1:p.Arg1055His
XM_017021722.2:c.3101G>A	XP_016877211.1:p.Arg1034His
XM_017021723.2:c.3077G>A	XP_016877212.1:p.Arg1026His
XM_017021725.1:c.3038G>A	XP_016877214.1:p.Arg1013His
XM_017021726.2:c.3014G>A	XP_016877215.1:p.Arg1005His
XM_017021727.2:c.2555G>A	XP_016877216.1:p.Arg852His
XM_017021728.2:c.2468G>A	XP_016877217.1:p.Arg823His
NM_001102.4:c.2546G>A	NP_001093.1:p.Arg849His
NM_001130005.2:c.2531G>A	NP_001123477.1:p.Arg844His
NM_001130004.2:c.2612G>A MANE Select	NP_001123476.1:p.Arg871His