Canonical Allele Identifier: CA7242197

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68880924C>T , CM000676.2:g.68880924C>T	GRCh38
NC_000014.8:g.69347641C>T , CM000676.1:g.69347641C>T	GRCh37
NC_000014.7:g.68417394C>T	NCBI36
NG_029480.1:g.103443G>A , LRG_886:g.103443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682130.1:n.2124G>A
ENST00000682291.1:c.2019G>A	ENSP00000507093.1:p.Gln673=
ENST00000682298.1:n.2392G>A
ENST00000682331.1:c.1836G>A	ENSP00000508329.1:p.Gln612=
ENST00000682378.1:n.2307G>A
ENST00000682381.1:n.2307G>A
ENST00000682522.1:n.1908G>A
ENST00000682559.1:c.*1472G>A	ENSP00000507271.1:n.*1472G>A
ENST00000683069.1:n.2219G>A
ENST00000683198.1:c.2043G>A	ENSP00000507889.1:p.Gln681=
ENST00000683225.1:c.1824G>A	ENSP00000506977.1:p.Gln608=
ENST00000683267.1:c.*1297G>A	ENSP00000508356.1:n.*1297G>A
ENST00000683342.1:c.2019G>A	ENSP00000508301.1:p.Gln673=
ENST00000683780.1:n.2865G>A
ENST00000684146.1:n.2307G>A
ENST00000684182.1:c.1824G>A	ENSP00000508177.1:p.Gln608=
ENST00000684287.1:n.1285G>A
ENST00000684340.1:n.2307G>A
ENST00000684598.1:c.2019G>A	ENSP00000507785.1:p.Gln673=
ENST00000684638.1:c.*1297G>A	ENSP00000507609.1:n.*1297G>A
ENST00000684639.1:c.1899G>A	ENSP00000507653.1:p.Gln633=
ENST00000684713.1:c.1926G>A	ENSP00000507155.1:p.Gln642=
ENST00000394419.9:c.2019G>A MANE Select	ENSP00000377941.4:p.Gln673=
ENST00000679147.1:c.2043G>A	ENSP00000504355.1:p.Gln681=
ENST00000193403.10:c.2019G>A	ENSP00000193403.6:p.Gln673=
ENST00000376839.7:c.1824G>A	ENSP00000366035.3:p.Gln608=
ENST00000394419.8:c.2019G>A	ENSP00000377941.4:p.Gln673=
ENST00000438964.6:c.2019G>A	ENSP00000414272.2:p.Gln673=
ENST00000538545.6:c.2019G>A	ENSP00000439828.2:p.Gln673=
ENST00000544964.6:c.606G>A	ENSP00000444422.2:p.Gln202=
ENST00000553290.1:c.337G>A
ENST00000555075.5:c.176G>A
ENST00000556083.1:n.3473G>A
ENST00000556432.1:n.199G>A
NM_001102.3:c.2019G>A	NP_001093.1:p.Gln673=
NM_001130004.1:c.2019G>A , LRG_886t1:c.2019G>A	NP_001123476.1:p.Gln673=
NM_001130005.1:c.2019G>A	NP_001123477.1:p.Gln673=
XM_011537265.1:c.2130G>A	XP_011535567.1:p.Gln710=
XM_011537266.1:c.2130G>A	XP_011535568.1:p.Gln710=
XM_011537267.1:c.2106G>A	XP_011535569.1:p.Gln702=
XM_011537268.1:c.2106G>A	XP_011535570.1:p.Gln702=
XM_011537269.1:c.2043G>A	XP_011535571.1:p.Gln681=
XM_011537270.1:c.1980G>A	XP_011535572.1:p.Gln660=
XM_011537271.1:c.1956G>A	XP_011535573.1:p.Gln652=
XM_011537265.2:c.2130G>A	XP_011535567.1:p.Gln710=
XM_011537266.3:c.2130G>A	XP_011535568.1:p.Gln710=
XM_011537267.3:c.2106G>A	XP_011535569.1:p.Gln702=
XM_011537268.3:c.2106G>A	XP_011535570.1:p.Gln702=
XM_017021720.1:c.2130G>A	XP_016877209.1:p.Gln710=
XM_017021721.2:c.2106G>A	XP_016877210.1:p.Gln702=
XM_017021722.2:c.2043G>A	XP_016877211.1:p.Gln681=
XM_017021723.2:c.2019G>A	XP_016877212.1:p.Gln673=
XM_017021725.1:c.1980G>A	XP_016877214.1:p.Gln660=
XM_017021726.2:c.1956G>A	XP_016877215.1:p.Gln652=
XM_017021727.2:c.2043G>A	XP_016877216.1:p.Gln681=
XM_017021728.2:c.1956G>A	XP_016877217.1:p.Gln652=
NM_001102.4:c.2019G>A	NP_001093.1:p.Gln673=
NM_001130005.2:c.2019G>A	NP_001123477.1:p.Gln673=
NM_001130004.2:c.2019G>A MANE Select	NP_001123476.1:p.Gln673=