Canonical Allele Identifier: CA7241885

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68874944G>T , CM000676.2:g.68874944G>T	GRCh38
NC_000014.8:g.69341661G>T , CM000676.1:g.69341661G>T	GRCh37
NC_000014.7:g.68411414G>T	NCBI36
NG_029480.1:g.109423C>A , LRG_886:g.109423C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.2092C>A
ENST00000682130.1:n.3901C>A
ENST00000682291.1:c.2657C>A	ENSP00000507093.1:p.Ala886Asp
ENST00000682298.1:n.4250C>A
ENST00000682331.1:c.2396C>A	ENSP00000508329.1:p.Ala799Asp
ENST00000682378.1:n.4630C>A
ENST00000682381.1:n.4165C>A
ENST00000682522.1:n.2549C>A
ENST00000682559.1:c.*2113C>A	ENSP00000507271.1:n.*2113C>A
ENST00000683069.1:n.3996C>A
ENST00000683198.1:c.2684C>A	ENSP00000507889.1:p.Ala895Asp
ENST00000683225.1:c.2384C>A	ENSP00000506977.1:p.Ala795Asp
ENST00000683267.1:c.*1872C>A	ENSP00000508356.1:n.*1872C>A
ENST00000683780.1:n.3506C>A
ENST00000684146.1:n.3413C>A
ENST00000684182.1:c.2399C>A	ENSP00000508177.1:p.Ala800Asp
ENST00000684287.1:n.1926C>A
ENST00000684340.1:n.4084C>A
ENST00000684598.1:c.2576C>A	ENSP00000507785.1:p.Ala859Asp
ENST00000684638.1:c.*1938C>A	ENSP00000507609.1:n.*1938C>A
ENST00000684639.1:c.2540C>A	ENSP00000507653.1:p.Ala847Asp
ENST00000684713.1:c.2567C>A	ENSP00000507155.1:p.Ala856Asp
ENST00000394419.9:c.2660C>A MANE Select	ENSP00000377941.4:p.Ala887Asp
ENST00000679147.1:c.2603C>A	ENSP00000504355.1:p.Ala868Asp
ENST00000193403.10:c.2594C>A	ENSP00000193403.6:p.Ala865Asp
ENST00000376839.7:c.2384C>A	ENSP00000366035.3:p.Ala795Asp
ENST00000394419.8:c.2660C>A	ENSP00000377941.4:p.Ala887Asp
ENST00000438964.6:c.2579C>A	ENSP00000414272.2:p.Ala860Asp
ENST00000538545.6:c.2708C>A	ENSP00000439828.2:p.Ala903Asp
ENST00000553882.1:n.2015C>A
ENST00000555075.5:c.670C>A
ENST00000556083.1:n.4048C>A
NM_001102.3:c.2594C>A	NP_001093.1:p.Ala865Asp
NM_001130004.1:c.2660C>A , LRG_886t1:c.2660C>A	NP_001123476.1:p.Ala887Asp
NM_001130005.1:c.2579C>A	NP_001123477.1:p.Ala860Asp
XM_011537265.1:c.2705C>A	XP_011535567.1:p.Ala902Asp
XM_011537266.1:c.2690C>A	XP_011535568.1:p.Ala897Asp
XM_011537267.1:c.2681C>A	XP_011535569.1:p.Ala894Asp
XM_011537268.1:c.2666C>A	XP_011535570.1:p.Ala889Asp
XM_011537269.1:c.2618C>A	XP_011535571.1:p.Ala873Asp
XM_011537270.1:c.2555C>A	XP_011535572.1:p.Ala852Asp
XM_011537271.1:c.2531C>A	XP_011535573.1:p.Ala844Asp
XM_011537265.2:c.2705C>A	XP_011535567.1:p.Ala902Asp
XM_011537266.3:c.2690C>A	XP_011535568.1:p.Ala897Asp
XM_011537267.3:c.2681C>A	XP_011535569.1:p.Ala894Asp
XM_011537268.3:c.2666C>A	XP_011535570.1:p.Ala889Asp
XM_017021720.1:c.3236C>A	XP_016877209.1:p.Ala1079Asp
XM_017021721.2:c.3212C>A	XP_016877210.1:p.Ala1071Asp
XM_017021722.2:c.3149C>A	XP_016877211.1:p.Ala1050Asp
XM_017021723.2:c.3125C>A	XP_016877212.1:p.Ala1042Asp
XM_017021725.1:c.3086C>A	XP_016877214.1:p.Ala1029Asp
XM_017021726.2:c.3062C>A	XP_016877215.1:p.Ala1021Asp
XM_017021727.2:c.2603C>A	XP_016877216.1:p.Ala868Asp
XM_017021728.2:c.2516C>A	XP_016877217.1:p.Ala839Asp
NM_001102.4:c.2594C>A	NP_001093.1:p.Ala865Asp
NM_001130005.2:c.2579C>A	NP_001123477.1:p.Ala860Asp
NM_001130004.2:c.2660C>A MANE Select	NP_001123476.1:p.Ala887Asp