Canonical Allele Identifier: CA262848679

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68882990G>A , CM000676.2:g.68882990G>A	GRCh38
NC_000014.8:g.69349707G>A , CM000676.1:g.69349707G>A	GRCh37
NC_000014.7:g.68419460G>A	NCBI36
NG_029480.1:g.101377C>T , LRG_886:g.101377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682130.1:n.1924-398C>T
ENST00000682291.1:c.1701C>T	ENSP00000507093.1:p.Ala567=
ENST00000682298.1:n.2074C>T
ENST00000682331.1:c.1636-398C>T	ENSP00000508329.1:n.1636-398C>T
ENST00000682378.1:n.1989C>T
ENST00000682381.1:n.1989C>T
ENST00000682522.1:n.1590C>T
ENST00000682559.1:c.*1154C>T	ENSP00000507271.1:n.*1154C>T
ENST00000683069.1:n.1901C>T
ENST00000683198.1:c.1725C>T	ENSP00000507889.1:p.Ala575=
ENST00000683225.1:c.1506C>T	ENSP00000506977.1:p.Ala502=
ENST00000683267.1:c.*979C>T	ENSP00000508356.1:n.*979C>T
ENST00000683342.1:c.1701C>T	ENSP00000508301.1:p.Ala567=
ENST00000683780.1:n.2547C>T
ENST00000684146.1:n.1989C>T
ENST00000684182.1:c.1506C>T	ENSP00000508177.1:p.Ala502=
ENST00000684287.1:n.967C>T
ENST00000684340.1:n.1989C>T
ENST00000684598.1:c.1701C>T	ENSP00000507785.1:p.Ala567=
ENST00000684638.1:c.*979C>T	ENSP00000507609.1:n.*979C>T
ENST00000684639.1:c.1581C>T	ENSP00000507653.1:p.Ala527=
ENST00000684713.1:c.1608C>T	ENSP00000507155.1:p.Ala536=
ENST00000394419.9:c.1701C>T MANE Select	ENSP00000377941.4:p.Ala567=
ENST00000679147.1:c.1725C>T	ENSP00000504355.1:p.Ala575=
ENST00000193403.10:c.1701C>T	ENSP00000193403.6:p.Ala567=
ENST00000376839.7:c.1506C>T	ENSP00000366035.3:p.Ala502=
ENST00000394419.8:c.1701C>T	ENSP00000377941.4:p.Ala567=
ENST00000438964.6:c.1701C>T	ENSP00000414272.2:p.Ala567=
ENST00000538545.6:c.1701C>T	ENSP00000439828.2:p.Ala567=
ENST00000544964.6:c.471C>T	ENSP00000444422.2:p.Ala157=
ENST00000553290.1:c.137-398C>T
ENST00000556083.1:n.3155C>T
NM_001102.3:c.1701C>T	NP_001093.1:p.Ala567=
NM_001130004.1:c.1701C>T , LRG_886t1:c.1701C>T	NP_001123476.1:p.Ala567=
NM_001130005.1:c.1701C>T	NP_001123477.1:p.Ala567=
XM_011537265.1:c.1812C>T	XP_011535567.1:p.Ala604=
XM_011537266.1:c.1812C>T	XP_011535568.1:p.Ala604=
XM_011537267.1:c.1788C>T	XP_011535569.1:p.Ala596=
XM_011537268.1:c.1788C>T	XP_011535570.1:p.Ala596=
XM_011537269.1:c.1725C>T	XP_011535571.1:p.Ala575=
XM_011537270.1:c.1662C>T	XP_011535572.1:p.Ala554=
XM_011537271.1:c.1638C>T	XP_011535573.1:p.Ala546=
XM_011537265.2:c.1812C>T	XP_011535567.1:p.Ala604=
XM_011537266.3:c.1812C>T	XP_011535568.1:p.Ala604=
XM_011537267.3:c.1788C>T	XP_011535569.1:p.Ala596=
XM_011537268.3:c.1788C>T	XP_011535570.1:p.Ala596=
XM_017021720.1:c.1812C>T	XP_016877209.1:p.Ala604=
XM_017021721.2:c.1788C>T	XP_016877210.1:p.Ala596=
XM_017021722.2:c.1725C>T	XP_016877211.1:p.Ala575=
XM_017021723.2:c.1701C>T	XP_016877212.1:p.Ala567=
XM_017021725.1:c.1662C>T	XP_016877214.1:p.Ala554=
XM_017021726.2:c.1638C>T	XP_016877215.1:p.Ala546=
XM_017021727.2:c.1725C>T	XP_016877216.1:p.Ala575=
XM_017021728.2:c.1638C>T	XP_016877217.1:p.Ala546=
NM_001102.4:c.1701C>T	NP_001093.1:p.Ala567=
NM_001130005.2:c.1701C>T	NP_001123477.1:p.Ala567=
NM_001130004.2:c.1701C>T MANE Select	NP_001123476.1:p.Ala567=