Canonical Allele Identifier: CA7242013

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68878489C>T , CM000676.2:g.68878489C>T	GRCh38
NC_000014.8:g.69345206C>T , CM000676.1:g.69345206C>T	GRCh37
NC_000014.7:g.68414959C>T	NCBI36
NG_029480.1:g.105878G>A , LRG_886:g.105878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.611G>A
ENST00000682130.1:n.2420G>A
ENST00000682291.1:c.2393G>A	ENSP00000507093.1:p.Arg798His
ENST00000682298.1:n.2769G>A
ENST00000682331.1:c.2132G>A	ENSP00000508329.1:p.Arg711His
ENST00000682378.1:n.3149G>A
ENST00000682381.1:n.2684G>A
ENST00000682522.1:n.2285G>A
ENST00000682559.1:c.*1849G>A	ENSP00000507271.1:n.*1849G>A
ENST00000683069.1:n.2515G>A
ENST00000683198.1:c.2420G>A	ENSP00000507889.1:p.Arg807His
ENST00000683225.1:c.2120G>A	ENSP00000506977.1:p.Arg707His
ENST00000683267.1:c.*1639+500G>A	ENSP00000508356.1:n.*1639+500G>A
ENST00000683342.1:c.2396G>A	ENSP00000508301.1:p.Arg799His
ENST00000683780.1:n.3242G>A
ENST00000684146.1:n.3149G>A
ENST00000684182.1:c.2166+500G>A	ENSP00000508177.1:n.2166+500G>A
ENST00000684287.1:n.1662G>A
ENST00000684340.1:n.2603G>A
ENST00000684598.1:c.2312G>A	ENSP00000507785.1:p.Arg771His
ENST00000684638.1:c.*1674G>A	ENSP00000507609.1:n.*1674G>A
ENST00000684639.1:c.2276G>A	ENSP00000507653.1:p.Arg759His
ENST00000684713.1:c.2303G>A	ENSP00000507155.1:p.Arg768His
ENST00000394419.9:c.2396G>A MANE Select	ENSP00000377941.4:p.Arg799His
ENST00000679147.1:c.2339G>A	ENSP00000504355.1:p.Arg780His
ENST00000193403.10:c.2361+500G>A	ENSP00000193403.6:n.2361+500G>A
ENST00000376839.7:c.2120G>A	ENSP00000366035.3:p.Arg707His
ENST00000394419.8:c.2396G>A	ENSP00000377941.4:p.Arg799His
ENST00000438964.6:c.2315G>A	ENSP00000414272.2:p.Arg772His
ENST00000538545.6:c.2315G>A	ENSP00000439828.2:p.Arg772His
ENST00000553882.1:n.534G>A
ENST00000555075.5:c.438-1249G>A
ENST00000556083.1:n.3815+500G>A
NM_001102.3:c.2361+500G>A	NP_001093.1:n.2361+500G>A
NM_001130004.1:c.2396G>A , LRG_886t1:c.2396G>A	NP_001123476.1:p.Arg799His
NM_001130005.1:c.2315G>A	NP_001123477.1:p.Arg772His
XM_011537265.1:c.2472+500G>A	XP_011535567.1:n.2472+500G>A
XM_011537266.1:c.2426G>A	XP_011535568.1:p.Arg809His
XM_011537267.1:c.2448+500G>A	XP_011535569.1:n.2448+500G>A
XM_011537268.1:c.2402G>A	XP_011535570.1:p.Arg801His
XM_011537269.1:c.2385+500G>A	XP_011535571.1:n.2385+500G>A
XM_011537270.1:c.2322+500G>A	XP_011535572.1:n.2322+500G>A
XM_011537271.1:c.2298+500G>A	XP_011535573.1:n.2298+500G>A
XM_011537265.2:c.2472+500G>A	XP_011535567.1:n.2472+500G>A
XM_011537266.3:c.2426G>A	XP_011535568.1:p.Arg809His
XM_011537267.3:c.2448+500G>A	XP_011535569.1:n.2448+500G>A
XM_011537268.3:c.2402G>A	XP_011535570.1:p.Arg801His
XM_017021720.1:c.2972G>A	XP_016877209.1:p.Arg991His
XM_017021721.2:c.2948G>A	XP_016877210.1:p.Arg983His
XM_017021722.2:c.2885G>A	XP_016877211.1:p.Arg962His
XM_017021723.2:c.2861G>A	XP_016877212.1:p.Arg954His
XM_017021725.1:c.2822G>A	XP_016877214.1:p.Arg941His
XM_017021726.2:c.2798G>A	XP_016877215.1:p.Arg933His
XM_017021727.2:c.2339G>A	XP_016877216.1:p.Arg780His
XM_017021728.2:c.2252G>A	XP_016877217.1:p.Arg751His
NM_001102.4:c.2361+500G>A	NP_001093.1:n.2361+500G>A
NM_001130005.2:c.2315G>A	NP_001123477.1:p.Arg772His
NM_001130004.2:c.2396G>A MANE Select	NP_001123476.1:p.Arg799His