Canonical Allele Identifier: CA262843472

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68878252G>A , CM000676.2:g.68878252G>A	GRCh38
NC_000014.8:g.69344969G>A , CM000676.1:g.69344969G>A	GRCh37
NC_000014.7:g.68414722G>A	NCBI36
NG_029480.1:g.106115C>T , LRG_886:g.106115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.848C>T
ENST00000682130.1:n.2657C>T
ENST00000682291.1:c.2424+206C>T	ENSP00000507093.1:n.2424+206C>T
ENST00000682298.1:n.3006C>T
ENST00000682331.1:c.2163+206C>T	ENSP00000508329.1:n.2163+206C>T
ENST00000682378.1:n.3386C>T
ENST00000682381.1:n.2921C>T
ENST00000682522.1:n.2316+206C>T
ENST00000682559.1:c.*1880+206C>T	ENSP00000507271.1:n.*1880+206C>T
ENST00000683069.1:n.2752C>T
ENST00000683198.1:c.2451+206C>T	ENSP00000507889.1:n.2451+206C>T
ENST00000683225.1:c.2151+206C>T	ENSP00000506977.1:n.2151+206C>T
ENST00000683267.1:c.*1639+737C>T	ENSP00000508356.1:n.*1639+737C>T
ENST00000683342.1:c.2427+206C>T	ENSP00000508301.1:n.2427+206C>T
ENST00000683780.1:n.3273+206C>T
ENST00000684146.1:n.3180+206C>T
ENST00000684182.1:c.2166+737C>T	ENSP00000508177.1:n.2166+737C>T
ENST00000684287.1:n.1693+206C>T
ENST00000684340.1:n.2840C>T
ENST00000684598.1:c.2343+206C>T	ENSP00000507785.1:n.2343+206C>T
ENST00000684638.1:c.*1705+206C>T	ENSP00000507609.1:n.*1705+206C>T
ENST00000684639.1:c.2307+206C>T	ENSP00000507653.1:n.2307+206C>T
ENST00000684713.1:c.2334+206C>T	ENSP00000507155.1:n.2334+206C>T
ENST00000394419.9:c.2427+206C>T MANE Select	ENSP00000377941.4:n.2427+206C>T
ENST00000679147.1:c.2370+206C>T	ENSP00000504355.1:n.2370+206C>T
ENST00000193403.10:c.2361+737C>T	ENSP00000193403.6:n.2361+737C>T
ENST00000376839.7:c.2151+206C>T	ENSP00000366035.3:n.2151+206C>T
ENST00000394419.8:c.2427+206C>T	ENSP00000377941.4:n.2427+206C>T
ENST00000438964.6:c.2346+206C>T	ENSP00000414272.2:n.2346+206C>T
ENST00000538545.6:c.2346+206C>T	ENSP00000439828.2:n.2346+206C>T
ENST00000553882.1:n.771C>T
ENST00000555075.5:c.438-1012C>T
ENST00000556083.1:n.3815+737C>T
NM_001102.3:c.2361+737C>T	NP_001093.1:n.2361+737C>T
NM_001130004.1:c.2427+206C>T , LRG_886t1:c.2427+206C>T	NP_001123476.1:n.2427+206C>T
NM_001130005.1:c.2346+206C>T	NP_001123477.1:n.2346+206C>T
XM_011537265.1:c.2472+737C>T	XP_011535567.1:n.2472+737C>T
XM_011537266.1:c.2457+206C>T	XP_011535568.1:n.2457+206C>T
XM_011537267.1:c.2448+737C>T	XP_011535569.1:n.2448+737C>T
XM_011537268.1:c.2433+206C>T	XP_011535570.1:n.2433+206C>T
XM_011537269.1:c.2385+737C>T	XP_011535571.1:n.2385+737C>T
XM_011537270.1:c.2322+737C>T	XP_011535572.1:n.2322+737C>T
XM_011537271.1:c.2298+737C>T	XP_011535573.1:n.2298+737C>T
XM_011537265.2:c.2472+737C>T	XP_011535567.1:n.2472+737C>T
XM_011537266.3:c.2457+206C>T	XP_011535568.1:n.2457+206C>T
XM_011537267.3:c.2448+737C>T	XP_011535569.1:n.2448+737C>T
XM_011537268.3:c.2433+206C>T	XP_011535570.1:n.2433+206C>T
XM_017021720.1:c.3003+206C>T	XP_016877209.1:n.3003+206C>T
XM_017021721.2:c.2979+206C>T	XP_016877210.1:n.2979+206C>T
XM_017021722.2:c.2916+206C>T	XP_016877211.1:n.2916+206C>T
XM_017021723.2:c.2892+206C>T	XP_016877212.1:n.2892+206C>T
XM_017021725.1:c.2853+206C>T	XP_016877214.1:n.2853+206C>T
XM_017021726.2:c.2829+206C>T	XP_016877215.1:n.2829+206C>T
XM_017021727.2:c.2370+206C>T	XP_016877216.1:n.2370+206C>T
XM_017021728.2:c.2283+206C>T	XP_016877217.1:n.2283+206C>T
NM_001102.4:c.2361+737C>T	NP_001093.1:n.2361+737C>T
NM_001130005.2:c.2346+206C>T	NP_001123477.1:n.2346+206C>T
NM_001130004.2:c.2427+206C>T MANE Select	NP_001123476.1:n.2427+206C>T