Canonical Allele Identifier: CA390181682

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68880033T>C , CM000676.2:g.68880033T>C	GRCh38
NC_000014.8:g.69346750T>C , CM000676.1:g.69346750T>C	GRCh37
NC_000014.7:g.68416503T>C	NCBI36
NG_029480.1:g.104334A>G , LRG_886:g.104334A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001130004.2:c.2209A>G MANE Select	NP_001123476.1:p.Thr737Ala
ENST00000394419.9:c.2209A>G MANE Select	ENSP00000377941.4:p.Thr737Ala
NM_001102.3:c.2209A>G	NP_001093.1:p.Thr737Ala
NM_001102.4:c.2209A>G	NP_001093.1:p.Thr737Ala
NM_001130004.1:c.2209A>G , LRG_886t1:c.2209A>G	NP_001123476.1:p.Thr737Ala
NM_001130005.1:c.2209A>G	NP_001123477.1:p.Thr737Ala
NM_001130005.2:c.2209A>G	NP_001123477.1:p.Thr737Ala
ENST00000193403.10:c.2209A>G	ENSP00000193403.6:p.Thr737Ala
ENST00000376839.7:c.2014A>G	ENSP00000366035.3:p.Thr672Ala
ENST00000394419.8:c.2209A>G	ENSP00000377941.4:p.Thr737Ala
ENST00000438964.6:c.2209A>G	ENSP00000414272.2:p.Thr737Ala
ENST00000538545.6:c.2209A>G	ENSP00000439828.2:p.Thr737Ala
ENST00000544964.6:c.796A>G	ENSP00000444422.2:p.Thr266Ala
ENST00000553290.1:c.527A>G
ENST00000555075.5:c.366A>G
ENST00000556083.1:n.3663A>G
ENST00000556432.1:n.389A>G
ENST00000679147.1:c.2233A>G	ENSP00000504355.1:p.Thr745Ala
ENST00000682130.1:n.2314A>G
ENST00000682291.1:c.2209A>G	ENSP00000507093.1:p.Thr737Ala
ENST00000682298.1:n.2582A>G
ENST00000682331.1:c.2026A>G	ENSP00000508329.1:p.Thr676Ala
ENST00000682378.1:n.2497A>G
ENST00000682381.1:n.2497A>G
ENST00000682522.1:n.2098A>G
ENST00000682559.1:c.*1662A>G	ENSP00000507271.1:n.*1662A>G
ENST00000683069.1:n.2409A>G
ENST00000683198.1:c.2233A>G	ENSP00000507889.1:p.Thr745Ala
ENST00000683225.1:c.2014A>G	ENSP00000506977.1:p.Thr672Ala
ENST00000683267.1:c.*1487A>G	ENSP00000508356.1:n.*1487A>G
ENST00000683342.1:c.2209A>G	ENSP00000508301.1:p.Thr737Ala
ENST00000683780.1:n.3055A>G
ENST00000684146.1:n.2497A>G
ENST00000684182.1:c.2014A>G	ENSP00000508177.1:p.Thr672Ala
ENST00000684287.1:n.1475A>G
ENST00000684340.1:n.2497A>G
ENST00000684598.1:c.2209A>G	ENSP00000507785.1:p.Thr737Ala
ENST00000684638.1:c.*1487A>G	ENSP00000507609.1:n.*1487A>G
ENST00000684639.1:c.2089A>G	ENSP00000507653.1:p.Thr697Ala
ENST00000684713.1:c.2116A>G	ENSP00000507155.1:p.Thr706Ala
XM_011537265.1:c.2320A>G	XP_011535567.1:p.Thr774Ala
XM_011537265.2:c.2320A>G	XP_011535567.1:p.Thr774Ala
XM_011537266.1:c.2320A>G	XP_011535568.1:p.Thr774Ala
XM_011537266.3:c.2320A>G	XP_011535568.1:p.Thr774Ala
XM_011537267.1:c.2296A>G	XP_011535569.1:p.Thr766Ala
XM_011537267.3:c.2296A>G	XP_011535569.1:p.Thr766Ala
XM_011537268.1:c.2296A>G	XP_011535570.1:p.Thr766Ala
XM_011537268.3:c.2296A>G	XP_011535570.1:p.Thr766Ala
XM_011537269.1:c.2233A>G	XP_011535571.1:p.Thr745Ala
XM_011537270.1:c.2170A>G	XP_011535572.1:p.Thr724Ala
XM_011537271.1:c.2146A>G	XP_011535573.1:p.Thr716Ala
XM_017021720.1:c.2320A>G	XP_016877209.1:p.Thr774Ala
XM_017021721.2:c.2296A>G	XP_016877210.1:p.Thr766Ala
XM_017021722.2:c.2233A>G	XP_016877211.1:p.Thr745Ala
XM_017021723.2:c.2209A>G	XP_016877212.1:p.Thr737Ala
XM_017021725.1:c.2170A>G	XP_016877214.1:p.Thr724Ala
XM_017021726.2:c.2146A>G	XP_016877215.1:p.Thr716Ala
XM_017021727.2:c.2233A>G	XP_016877216.1:p.Thr745Ala
XM_017021728.2:c.2146A>G	XP_016877217.1:p.Thr716Ala