Canonical Allele Identifier: CA487084016

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68874979T>C , CM000676.2:g.68874979T>C	GRCh38
NC_000014.8:g.69341696T>C , CM000676.1:g.69341696T>C	GRCh37
NC_000014.7:g.68411449T>C	NCBI36
NG_029480.1:g.109388A>G , LRG_886:g.109388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.2057A>G
ENST00000682130.1:n.3866A>G
ENST00000682291.1:c.2622A>G	ENSP00000507093.1:p.Pro874=
ENST00000682298.1:n.4215A>G
ENST00000682331.1:c.2361A>G	ENSP00000508329.1:p.Pro787=
ENST00000682378.1:n.4595A>G
ENST00000682381.1:n.4130A>G
ENST00000682522.1:n.2514A>G
ENST00000682559.1:c.*2078A>G	ENSP00000507271.1:n.*2078A>G
ENST00000683069.1:n.3961A>G
ENST00000683198.1:c.2649A>G	ENSP00000507889.1:p.Pro883=
ENST00000683225.1:c.2349A>G	ENSP00000506977.1:p.Pro783=
ENST00000683267.1:c.*1837A>G	ENSP00000508356.1:n.*1837A>G
ENST00000683780.1:n.3471A>G
ENST00000684146.1:n.3378A>G
ENST00000684182.1:c.2364A>G	ENSP00000508177.1:p.Pro788=
ENST00000684287.1:n.1891A>G
ENST00000684340.1:n.4049A>G
ENST00000684598.1:c.2541A>G	ENSP00000507785.1:p.Pro847=
ENST00000684638.1:c.*1903A>G	ENSP00000507609.1:n.*1903A>G
ENST00000684639.1:c.2505A>G	ENSP00000507653.1:p.Pro835=
ENST00000684713.1:c.2532A>G	ENSP00000507155.1:p.Pro844=
ENST00000394419.9:c.2625A>G MANE Select	ENSP00000377941.4:p.Pro875=
ENST00000679147.1:c.2568A>G	ENSP00000504355.1:p.Pro856=
ENST00000193403.10:c.2559A>G	ENSP00000193403.6:p.Pro853=
ENST00000376839.7:c.2349A>G	ENSP00000366035.3:p.Pro783=
ENST00000394419.8:c.2625A>G	ENSP00000377941.4:p.Pro875=
ENST00000438964.6:c.2544A>G	ENSP00000414272.2:p.Pro848=
ENST00000538545.6:c.2673A>G	ENSP00000439828.2:p.Pro891=
ENST00000553882.1:n.1980A>G
ENST00000555075.5:c.635A>G
ENST00000556083.1:n.4013A>G
NM_001102.3:c.2559A>G	NP_001093.1:p.Pro853=
NM_001130004.1:c.2625A>G , LRG_886t1:c.2625A>G	NP_001123476.1:p.Pro875=
NM_001130005.1:c.2544A>G	NP_001123477.1:p.Pro848=
XM_011537265.1:c.2670A>G	XP_011535567.1:p.Pro890=
XM_011537266.1:c.2655A>G	XP_011535568.1:p.Pro885=
XM_011537267.1:c.2646A>G	XP_011535569.1:p.Pro882=
XM_011537268.1:c.2631A>G	XP_011535570.1:p.Pro877=
XM_011537269.1:c.2583A>G	XP_011535571.1:p.Pro861=
XM_011537270.1:c.2520A>G	XP_011535572.1:p.Pro840=
XM_011537271.1:c.2496A>G	XP_011535573.1:p.Pro832=
XM_011537265.2:c.2670A>G	XP_011535567.1:p.Pro890=
XM_011537266.3:c.2655A>G	XP_011535568.1:p.Pro885=
XM_011537267.3:c.2646A>G	XP_011535569.1:p.Pro882=
XM_011537268.3:c.2631A>G	XP_011535570.1:p.Pro877=
XM_017021720.1:c.3201A>G	XP_016877209.1:p.Pro1067=
XM_017021721.2:c.3177A>G	XP_016877210.1:p.Pro1059=
XM_017021722.2:c.3114A>G	XP_016877211.1:p.Pro1038=
XM_017021723.2:c.3090A>G	XP_016877212.1:p.Pro1030=
XM_017021725.1:c.3051A>G	XP_016877214.1:p.Pro1017=
XM_017021726.2:c.3027A>G	XP_016877215.1:p.Pro1009=
XM_017021727.2:c.2568A>G	XP_016877216.1:p.Pro856=
XM_017021728.2:c.2481A>G	XP_016877217.1:p.Pro827=
NM_001102.4:c.2559A>G	NP_001093.1:p.Pro853=
NM_001130005.2:c.2544A>G	NP_001123477.1:p.Pro848=
NM_001130004.2:c.2625A>G MANE Select	NP_001123476.1:p.Pro875=