Canonical Allele Identifier: CA390181590

Gene: ACTN1

Linked Data

• MyVariant Identifiers: chr14:g.69346711C>T (hg19) ; chr14:g.68879994C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68879994C>T , CM000676.2:g.68879994C>T	GRCh38
NC_000014.8:g.69346711C>T , CM000676.1:g.69346711C>T	GRCh37
NC_000014.7:g.68416464C>T	NCBI36
NG_029480.1:g.104373G>A , LRG_886:g.104373G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682130.1:n.2353G>A
ENST00000682291.1:c.2248G>A	ENSP00000507093.1:p.Glu750Lys
ENST00000682298.1:n.2621G>A
ENST00000682331.1:c.2065G>A	ENSP00000508329.1:p.Glu689Lys
ENST00000682378.1:n.2536G>A
ENST00000682381.1:n.2536G>A
ENST00000682522.1:n.2137G>A
ENST00000682559.1:c.*1701G>A	ENSP00000507271.1:n.*1701G>A
ENST00000683069.1:n.2448G>A
ENST00000683198.1:c.2272G>A	ENSP00000507889.1:p.Glu758Lys
ENST00000683225.1:c.2053G>A	ENSP00000506977.1:p.Glu685Lys
ENST00000683267.1:c.*1526G>A	ENSP00000508356.1:n.*1526G>A
ENST00000683342.1:c.2248G>A	ENSP00000508301.1:p.Glu750Lys
ENST00000683780.1:n.3094G>A
ENST00000684146.1:n.2536G>A
ENST00000684182.1:c.2053G>A	ENSP00000508177.1:p.Glu685Lys
ENST00000684287.1:n.1514G>A
ENST00000684340.1:n.2536G>A
ENST00000684598.1:c.2248G>A	ENSP00000507785.1:p.Glu750Lys
ENST00000684638.1:c.*1526G>A	ENSP00000507609.1:n.*1526G>A
ENST00000684639.1:c.2128G>A	ENSP00000507653.1:p.Glu710Lys
ENST00000684713.1:c.2155G>A	ENSP00000507155.1:p.Glu719Lys
ENST00000394419.9:c.2248G>A MANE Select	ENSP00000377941.4:p.Glu750Lys
ENST00000679147.1:c.2272G>A	ENSP00000504355.1:p.Glu758Lys
ENST00000193403.10:c.2248G>A	ENSP00000193403.6:p.Glu750Lys
ENST00000376839.7:c.2053G>A	ENSP00000366035.3:p.Glu685Lys
ENST00000394419.8:c.2248G>A	ENSP00000377941.4:p.Glu750Lys
ENST00000438964.6:c.2248G>A	ENSP00000414272.2:p.Glu750Lys
ENST00000538545.6:c.2248G>A	ENSP00000439828.2:p.Glu750Lys
ENST00000544964.6:c.835G>A	ENSP00000444422.2:p.Glu279Lys
ENST00000553290.1:c.566G>A
ENST00000555075.5:c.405G>A
ENST00000556083.1:n.3702G>A
ENST00000556432.1:n.428G>A
NM_001102.3:c.2248G>A	NP_001093.1:p.Glu750Lys
NM_001130004.1:c.2248G>A , LRG_886t1:c.2248G>A	NP_001123476.1:p.Glu750Lys
NM_001130005.1:c.2248G>A	NP_001123477.1:p.Glu750Lys
XM_011537265.1:c.2359G>A	XP_011535567.1:p.Glu787Lys
XM_011537266.1:c.2359G>A	XP_011535568.1:p.Glu787Lys
XM_011537267.1:c.2335G>A	XP_011535569.1:p.Glu779Lys
XM_011537268.1:c.2335G>A	XP_011535570.1:p.Glu779Lys
XM_011537269.1:c.2272G>A	XP_011535571.1:p.Glu758Lys
XM_011537270.1:c.2209G>A	XP_011535572.1:p.Glu737Lys
XM_011537271.1:c.2185G>A	XP_011535573.1:p.Glu729Lys
XM_011537265.2:c.2359G>A	XP_011535567.1:p.Glu787Lys
XM_011537266.3:c.2359G>A	XP_011535568.1:p.Glu787Lys
XM_011537267.3:c.2335G>A	XP_011535569.1:p.Glu779Lys
XM_011537268.3:c.2335G>A	XP_011535570.1:p.Glu779Lys
XM_017021720.1:c.2359G>A	XP_016877209.1:p.Glu787Lys
XM_017021721.2:c.2335G>A	XP_016877210.1:p.Glu779Lys
XM_017021722.2:c.2272G>A	XP_016877211.1:p.Glu758Lys
XM_017021723.2:c.2248G>A	XP_016877212.1:p.Glu750Lys
XM_017021725.1:c.2209G>A	XP_016877214.1:p.Glu737Lys
XM_017021726.2:c.2185G>A	XP_016877215.1:p.Glu729Lys
XM_017021727.2:c.2272G>A	XP_016877216.1:p.Glu758Lys
XM_017021728.2:c.2185G>A	XP_016877217.1:p.Glu729Lys
NM_001102.4:c.2248G>A	NP_001093.1:p.Glu750Lys
NM_001130005.2:c.2248G>A	NP_001123477.1:p.Glu750Lys
NM_001130004.2:c.2248G>A MANE Select	NP_001123476.1:p.Glu750Lys