Canonical Allele Identifier: CA390179068

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68874935G>C , CM000676.2:g.68874935G>C	GRCh38
NC_000014.8:g.69341652G>C , CM000676.1:g.69341652G>C	GRCh37
NC_000014.7:g.68411405G>C	NCBI36
NG_029480.1:g.109432C>G , LRG_886:g.109432C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.2101C>G
ENST00000682130.1:n.3910C>G
ENST00000682291.1:c.2666C>G	ENSP00000507093.1:p.Thr889Ser
ENST00000682298.1:n.4259C>G
ENST00000682331.1:c.2405C>G	ENSP00000508329.1:p.Thr802Ser
ENST00000682378.1:n.4639C>G
ENST00000682381.1:n.4174C>G
ENST00000682522.1:n.2558C>G
ENST00000682559.1:c.*2122C>G	ENSP00000507271.1:n.*2122C>G
ENST00000683069.1:n.4005C>G
ENST00000683198.1:c.2693C>G	ENSP00000507889.1:p.Thr898Ser
ENST00000683225.1:c.2393C>G	ENSP00000506977.1:p.Thr798Ser
ENST00000683267.1:c.*1881C>G	ENSP00000508356.1:n.*1881C>G
ENST00000683780.1:n.3515C>G
ENST00000684146.1:n.3422C>G
ENST00000684182.1:c.2408C>G	ENSP00000508177.1:p.Thr803Ser
ENST00000684287.1:n.1935C>G
ENST00000684340.1:n.4093C>G
ENST00000684598.1:c.2585C>G	ENSP00000507785.1:p.Thr862Ser
ENST00000684638.1:c.*1947C>G	ENSP00000507609.1:n.*1947C>G
ENST00000684639.1:c.2549C>G	ENSP00000507653.1:p.Thr850Ser
ENST00000684713.1:c.2576C>G	ENSP00000507155.1:p.Thr859Ser
ENST00000394419.9:c.2669C>G MANE Select	ENSP00000377941.4:p.Thr890Ser
ENST00000679147.1:c.2612C>G	ENSP00000504355.1:p.Thr871Ser
ENST00000193403.10:c.2603C>G	ENSP00000193403.6:p.Thr868Ser
ENST00000376839.7:c.2393C>G	ENSP00000366035.3:p.Thr798Ser
ENST00000394419.8:c.2669C>G	ENSP00000377941.4:p.Thr890Ser
ENST00000438964.6:c.2588C>G	ENSP00000414272.2:p.Thr863Ser
ENST00000538545.6:c.2717C>G	ENSP00000439828.2:p.Thr906Ser
ENST00000553882.1:n.2024C>G
ENST00000555075.5:c.679C>G
ENST00000556083.1:n.4057C>G
NM_001102.3:c.2603C>G	NP_001093.1:p.Thr868Ser
NM_001130004.1:c.2669C>G , LRG_886t1:c.2669C>G	NP_001123476.1:p.Thr890Ser
NM_001130005.1:c.2588C>G	NP_001123477.1:p.Thr863Ser
XM_011537265.1:c.2714C>G	XP_011535567.1:p.Thr905Ser
XM_011537266.1:c.2699C>G	XP_011535568.1:p.Thr900Ser
XM_011537267.1:c.2690C>G	XP_011535569.1:p.Thr897Ser
XM_011537268.1:c.2675C>G	XP_011535570.1:p.Thr892Ser
XM_011537269.1:c.2627C>G	XP_011535571.1:p.Thr876Ser
XM_011537270.1:c.2564C>G	XP_011535572.1:p.Thr855Ser
XM_011537271.1:c.2540C>G	XP_011535573.1:p.Thr847Ser
XM_011537265.2:c.2714C>G	XP_011535567.1:p.Thr905Ser
XM_011537266.3:c.2699C>G	XP_011535568.1:p.Thr900Ser
XM_011537267.3:c.2690C>G	XP_011535569.1:p.Thr897Ser
XM_011537268.3:c.2675C>G	XP_011535570.1:p.Thr892Ser
XM_017021720.1:c.3245C>G	XP_016877209.1:p.Thr1082Ser
XM_017021721.2:c.3221C>G	XP_016877210.1:p.Thr1074Ser
XM_017021722.2:c.3158C>G	XP_016877211.1:p.Thr1053Ser
XM_017021723.2:c.3134C>G	XP_016877212.1:p.Thr1045Ser
XM_017021725.1:c.3095C>G	XP_016877214.1:p.Thr1032Ser
XM_017021726.2:c.3071C>G	XP_016877215.1:p.Thr1024Ser
XM_017021727.2:c.2612C>G	XP_016877216.1:p.Thr871Ser
XM_017021728.2:c.2525C>G	XP_016877217.1:p.Thr842Ser
NM_001102.4:c.2603C>G	NP_001093.1:p.Thr868Ser
NM_001130005.2:c.2588C>G	NP_001123477.1:p.Thr863Ser
NM_001130004.2:c.2669C>G MANE Select	NP_001123476.1:p.Thr890Ser