Canonical Allele Identifier: CA7242015

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68878501G>A , CM000676.2:g.68878501G>A	GRCh38
NC_000014.8:g.69345218G>A , CM000676.1:g.69345218G>A	GRCh37
NC_000014.7:g.68414971G>A	NCBI36
NG_029480.1:g.105866C>T , LRG_886:g.105866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.599C>T
ENST00000682130.1:n.2408C>T
ENST00000682291.1:c.2381C>T	ENSP00000507093.1:p.Thr794Met
ENST00000682298.1:n.2757C>T
ENST00000682331.1:c.2120C>T	ENSP00000508329.1:p.Thr707Met
ENST00000682378.1:n.3137C>T
ENST00000682381.1:n.2672C>T
ENST00000682522.1:n.2273C>T
ENST00000682559.1:c.*1837C>T	ENSP00000507271.1:n.*1837C>T
ENST00000683069.1:n.2503C>T
ENST00000683198.1:c.2408C>T	ENSP00000507889.1:p.Thr803Met
ENST00000683225.1:c.2108C>T	ENSP00000506977.1:p.Thr703Met
ENST00000683267.1:c.*1639+488C>T	ENSP00000508356.1:n.*1639+488C>T
ENST00000683342.1:c.2384C>T	ENSP00000508301.1:p.Thr795Met
ENST00000683780.1:n.3230C>T
ENST00000684146.1:n.3137C>T
ENST00000684182.1:c.2166+488C>T	ENSP00000508177.1:n.2166+488C>T
ENST00000684287.1:n.1650C>T
ENST00000684340.1:n.2591C>T
ENST00000684598.1:c.2300C>T	ENSP00000507785.1:p.Thr767Met
ENST00000684638.1:c.*1662C>T	ENSP00000507609.1:n.*1662C>T
ENST00000684639.1:c.2264C>T	ENSP00000507653.1:p.Thr755Met
ENST00000684713.1:c.2291C>T	ENSP00000507155.1:p.Thr764Met
ENST00000394419.9:c.2384C>T MANE Select	ENSP00000377941.4:p.Thr795Met
ENST00000679147.1:c.2327C>T	ENSP00000504355.1:p.Thr776Met
ENST00000193403.10:c.2361+488C>T	ENSP00000193403.6:n.2361+488C>T
ENST00000376839.7:c.2108C>T	ENSP00000366035.3:p.Thr703Met
ENST00000394419.8:c.2384C>T	ENSP00000377941.4:p.Thr795Met
ENST00000438964.6:c.2303C>T	ENSP00000414272.2:p.Thr768Met
ENST00000538545.6:c.2303C>T	ENSP00000439828.2:p.Thr768Met
ENST00000553882.1:n.522C>T
ENST00000555075.5:c.438-1261C>T
ENST00000556083.1:n.3815+488C>T
NM_001102.3:c.2361+488C>T	NP_001093.1:n.2361+488C>T
NM_001130004.1:c.2384C>T , LRG_886t1:c.2384C>T	NP_001123476.1:p.Thr795Met
NM_001130005.1:c.2303C>T	NP_001123477.1:p.Thr768Met
XM_011537265.1:c.2472+488C>T	XP_011535567.1:n.2472+488C>T
XM_011537266.1:c.2414C>T	XP_011535568.1:p.Thr805Met
XM_011537267.1:c.2448+488C>T	XP_011535569.1:n.2448+488C>T
XM_011537268.1:c.2390C>T	XP_011535570.1:p.Thr797Met
XM_011537269.1:c.2385+488C>T	XP_011535571.1:n.2385+488C>T
XM_011537270.1:c.2322+488C>T	XP_011535572.1:n.2322+488C>T
XM_011537271.1:c.2298+488C>T	XP_011535573.1:n.2298+488C>T
XM_011537265.2:c.2472+488C>T	XP_011535567.1:n.2472+488C>T
XM_011537266.3:c.2414C>T	XP_011535568.1:p.Thr805Met
XM_011537267.3:c.2448+488C>T	XP_011535569.1:n.2448+488C>T
XM_011537268.3:c.2390C>T	XP_011535570.1:p.Thr797Met
XM_017021720.1:c.2960C>T	XP_016877209.1:p.Thr987Met
XM_017021721.2:c.2936C>T	XP_016877210.1:p.Thr979Met
XM_017021722.2:c.2873C>T	XP_016877211.1:p.Thr958Met
XM_017021723.2:c.2849C>T	XP_016877212.1:p.Thr950Met
XM_017021725.1:c.2810C>T	XP_016877214.1:p.Thr937Met
XM_017021726.2:c.2786C>T	XP_016877215.1:p.Thr929Met
XM_017021727.2:c.2327C>T	XP_016877216.1:p.Thr776Met
XM_017021728.2:c.2240C>T	XP_016877217.1:p.Thr747Met
NM_001102.4:c.2361+488C>T	NP_001093.1:n.2361+488C>T
NM_001130005.2:c.2303C>T	NP_001123477.1:p.Thr768Met
NM_001130004.2:c.2384C>T MANE Select	NP_001123476.1:p.Thr795Met