Canonical Allele Identifier: CA7241888

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68874953G>A , CM000676.2:g.68874953G>A	GRCh38
NC_000014.8:g.69341670G>A , CM000676.1:g.69341670G>A	GRCh37
NC_000014.7:g.68411423G>A	NCBI36
NG_029480.1:g.109414C>T , LRG_886:g.109414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.2083C>T
ENST00000682130.1:n.3892C>T
ENST00000682291.1:c.2648C>T	ENSP00000507093.1:p.Ala883Val
ENST00000682298.1:n.4241C>T
ENST00000682331.1:c.2387C>T	ENSP00000508329.1:p.Ala796Val
ENST00000682378.1:n.4621C>T
ENST00000682381.1:n.4156C>T
ENST00000682522.1:n.2540C>T
ENST00000682559.1:c.*2104C>T	ENSP00000507271.1:n.*2104C>T
ENST00000683069.1:n.3987C>T
ENST00000683198.1:c.2675C>T	ENSP00000507889.1:p.Ala892Val
ENST00000683225.1:c.2375C>T	ENSP00000506977.1:p.Ala792Val
ENST00000683267.1:c.*1863C>T	ENSP00000508356.1:n.*1863C>T
ENST00000683780.1:n.3497C>T
ENST00000684146.1:n.3404C>T
ENST00000684182.1:c.2390C>T	ENSP00000508177.1:p.Ala797Val
ENST00000684287.1:n.1917C>T
ENST00000684340.1:n.4075C>T
ENST00000684598.1:c.2567C>T	ENSP00000507785.1:p.Ala856Val
ENST00000684638.1:c.*1929C>T	ENSP00000507609.1:n.*1929C>T
ENST00000684639.1:c.2531C>T	ENSP00000507653.1:p.Ala844Val
ENST00000684713.1:c.2558C>T	ENSP00000507155.1:p.Ala853Val
ENST00000394419.9:c.2651C>T MANE Select	ENSP00000377941.4:p.Ala884Val
ENST00000679147.1:c.2594C>T	ENSP00000504355.1:p.Ala865Val
ENST00000193403.10:c.2585C>T	ENSP00000193403.6:p.Ala862Val
ENST00000376839.7:c.2375C>T	ENSP00000366035.3:p.Ala792Val
ENST00000394419.8:c.2651C>T	ENSP00000377941.4:p.Ala884Val
ENST00000438964.6:c.2570C>T	ENSP00000414272.2:p.Ala857Val
ENST00000538545.6:c.2699C>T	ENSP00000439828.2:p.Ala900Val
ENST00000553882.1:n.2006C>T
ENST00000555075.5:c.661C>T
ENST00000556083.1:n.4039C>T
NM_001102.3:c.2585C>T	NP_001093.1:p.Ala862Val
NM_001130004.1:c.2651C>T , LRG_886t1:c.2651C>T	NP_001123476.1:p.Ala884Val
NM_001130005.1:c.2570C>T	NP_001123477.1:p.Ala857Val
XM_011537265.1:c.2696C>T	XP_011535567.1:p.Ala899Val
XM_011537266.1:c.2681C>T	XP_011535568.1:p.Ala894Val
XM_011537267.1:c.2672C>T	XP_011535569.1:p.Ala891Val
XM_011537268.1:c.2657C>T	XP_011535570.1:p.Ala886Val
XM_011537269.1:c.2609C>T	XP_011535571.1:p.Ala870Val
XM_011537270.1:c.2546C>T	XP_011535572.1:p.Ala849Val
XM_011537271.1:c.2522C>T	XP_011535573.1:p.Ala841Val
XM_011537265.2:c.2696C>T	XP_011535567.1:p.Ala899Val
XM_011537266.3:c.2681C>T	XP_011535568.1:p.Ala894Val
XM_011537267.3:c.2672C>T	XP_011535569.1:p.Ala891Val
XM_011537268.3:c.2657C>T	XP_011535570.1:p.Ala886Val
XM_017021720.1:c.3227C>T	XP_016877209.1:p.Ala1076Val
XM_017021721.2:c.3203C>T	XP_016877210.1:p.Ala1068Val
XM_017021722.2:c.3140C>T	XP_016877211.1:p.Ala1047Val
XM_017021723.2:c.3116C>T	XP_016877212.1:p.Ala1039Val
XM_017021725.1:c.3077C>T	XP_016877214.1:p.Ala1026Val
XM_017021726.2:c.3053C>T	XP_016877215.1:p.Ala1018Val
XM_017021727.2:c.2594C>T	XP_016877216.1:p.Ala865Val
XM_017021728.2:c.2507C>T	XP_016877217.1:p.Ala836Val
NM_001102.4:c.2585C>T	NP_001093.1:p.Ala862Val
NM_001130005.2:c.2570C>T	NP_001123477.1:p.Ala857Val
NM_001130004.2:c.2651C>T MANE Select	NP_001123476.1:p.Ala884Val