Canonical Allele Identifier: CA7241877

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68874933C>A , CM000676.2:g.68874933C>A	GRCh38
NC_000014.8:g.69341650C>A , CM000676.1:g.69341650C>A	GRCh37
NC_000014.7:g.68411403C>A	NCBI36
NG_029480.1:g.109434G>T , LRG_886:g.109434G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553882.2:n.2103G>T
ENST00000682130.1:n.3912G>T
ENST00000682291.1:c.2668G>T	ENSP00000507093.1:p.Gly890Cys
ENST00000682298.1:n.4261G>T
ENST00000682331.1:c.2407G>T	ENSP00000508329.1:p.Gly803Cys
ENST00000682378.1:n.4641G>T
ENST00000682381.1:n.4176G>T
ENST00000682522.1:n.2560G>T
ENST00000682559.1:c.*2124G>T	ENSP00000507271.1:n.*2124G>T
ENST00000683069.1:n.4007G>T
ENST00000683198.1:c.2695G>T	ENSP00000507889.1:p.Gly899Cys
ENST00000683225.1:c.2395G>T	ENSP00000506977.1:p.Gly799Cys
ENST00000683267.1:c.*1883G>T	ENSP00000508356.1:n.*1883G>T
ENST00000683780.1:n.3517G>T
ENST00000684146.1:n.3424G>T
ENST00000684182.1:c.2410G>T	ENSP00000508177.1:p.Gly804Cys
ENST00000684287.1:n.1937G>T
ENST00000684340.1:n.4095G>T
ENST00000684598.1:c.2587G>T	ENSP00000507785.1:p.Gly863Cys
ENST00000684638.1:c.*1949G>T	ENSP00000507609.1:n.*1949G>T
ENST00000684639.1:c.2551G>T	ENSP00000507653.1:p.Gly851Cys
ENST00000684713.1:c.2578G>T	ENSP00000507155.1:p.Gly860Cys
ENST00000394419.9:c.2671G>T MANE Select	ENSP00000377941.4:p.Gly891Cys
ENST00000679147.1:c.2614G>T	ENSP00000504355.1:p.Gly872Cys
ENST00000193403.10:c.2605G>T	ENSP00000193403.6:p.Gly869Cys
ENST00000376839.7:c.2395G>T	ENSP00000366035.3:p.Gly799Cys
ENST00000394419.8:c.2671G>T	ENSP00000377941.4:p.Gly891Cys
ENST00000438964.6:c.2590G>T	ENSP00000414272.2:p.Gly864Cys
ENST00000538545.6:c.2719G>T	ENSP00000439828.2:p.Gly907Cys
ENST00000553882.1:n.2026G>T
ENST00000555075.5:c.681G>T
ENST00000556083.1:n.4059G>T
NM_001102.3:c.2605G>T	NP_001093.1:p.Gly869Cys
NM_001130004.1:c.2671G>T , LRG_886t1:c.2671G>T	NP_001123476.1:p.Gly891Cys
NM_001130005.1:c.2590G>T	NP_001123477.1:p.Gly864Cys
XM_011537265.1:c.2716G>T	XP_011535567.1:p.Gly906Cys
XM_011537266.1:c.2701G>T	XP_011535568.1:p.Gly901Cys
XM_011537267.1:c.2692G>T	XP_011535569.1:p.Gly898Cys
XM_011537268.1:c.2677G>T	XP_011535570.1:p.Gly893Cys
XM_011537269.1:c.2629G>T	XP_011535571.1:p.Gly877Cys
XM_011537270.1:c.2566G>T	XP_011535572.1:p.Gly856Cys
XM_011537271.1:c.2542G>T	XP_011535573.1:p.Gly848Cys
XM_011537265.2:c.2716G>T	XP_011535567.1:p.Gly906Cys
XM_011537266.3:c.2701G>T	XP_011535568.1:p.Gly901Cys
XM_011537267.3:c.2692G>T	XP_011535569.1:p.Gly898Cys
XM_011537268.3:c.2677G>T	XP_011535570.1:p.Gly893Cys
XM_017021720.1:c.3247G>T	XP_016877209.1:p.Gly1083Cys
XM_017021721.2:c.3223G>T	XP_016877210.1:p.Gly1075Cys
XM_017021722.2:c.3160G>T	XP_016877211.1:p.Gly1054Cys
XM_017021723.2:c.3136G>T	XP_016877212.1:p.Gly1046Cys
XM_017021725.1:c.3097G>T	XP_016877214.1:p.Gly1033Cys
XM_017021726.2:c.3073G>T	XP_016877215.1:p.Gly1025Cys
XM_017021727.2:c.2614G>T	XP_016877216.1:p.Gly872Cys
XM_017021728.2:c.2527G>T	XP_016877217.1:p.Gly843Cys
NM_001102.4:c.2605G>T	NP_001093.1:p.Gly869Cys
NM_001130005.2:c.2590G>T	NP_001123477.1:p.Gly864Cys
NM_001130004.2:c.2671G>T MANE Select	NP_001123476.1:p.Gly891Cys