Canonical Allele Identifier: CA2838867554

Gene: ACTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68958714G>A , CM000676.2:g.68958714G>A	GRCh38
NC_000014.8:g.69425431G>A , CM000676.1:g.69425431G>A	GRCh37
NC_000014.7:g.68495184G>A	NCBI36
NG_029480.1:g.25653C>T , LRG_886:g.25653C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554508.6:c.-91+3596C>T	ENSP00000507578.1:n.-91+3596C>T
ENST00000682130.1:n.393+20238C>T
ENST00000682291.1:c.105+20238C>T	ENSP00000507093.1:n.105+20238C>T
ENST00000682298.1:n.393+20238C>T
ENST00000682331.1:c.105+20238C>T	ENSP00000508329.1:n.105+20238C>T
ENST00000682378.1:n.393+20238C>T
ENST00000682381.1:n.393+20238C>T
ENST00000682559.1:c.105+20238C>T	ENSP00000507271.1:n.105+20238C>T
ENST00000682602.1:n.199+20238C>T
ENST00000683069.1:n.393+20238C>T
ENST00000683198.1:c.105+20238C>T	ENSP00000507889.1:n.105+20238C>T
ENST00000683225.1:c.-91+12733C>T	ENSP00000506977.1:n.-91+12733C>T
ENST00000683261.1:n.393+20238C>T
ENST00000683267.1:c.105+20238C>T	ENSP00000508356.1:n.105+20238C>T
ENST00000683342.1:c.105+20238C>T	ENSP00000508301.1:n.105+20238C>T
ENST00000683780.1:n.393+20238C>T
ENST00000684146.1:n.393+20238C>T
ENST00000684340.1:n.393+20238C>T
ENST00000684598.1:c.105+20238C>T	ENSP00000507785.1:n.105+20238C>T
ENST00000684638.1:c.105+20238C>T	ENSP00000507609.1:n.105+20238C>T
ENST00000684639.1:c.105+20238C>T	ENSP00000507653.1:n.105+20238C>T
ENST00000684713.1:c.105+20238C>T	ENSP00000507155.1:n.105+20238C>T
ENST00000394419.9:c.105+20238C>T MANE Select	ENSP00000377941.4:n.105+20238C>T
ENST00000679147.1:c.105+20238C>T	ENSP00000504355.1:n.105+20238C>T
ENST00000193403.10:c.105+20238C>T	ENSP00000193403.6:n.105+20238C>T
ENST00000376839.7:c.-91+18664C>T	ENSP00000366035.3:n.-91+18664C>T
ENST00000394419.8:c.105+20238C>T	ENSP00000377941.4:n.105+20238C>T
ENST00000438964.6:c.105+20238C>T	ENSP00000414272.2:n.105+20238C>T
ENST00000538545.6:c.105+20238C>T	ENSP00000439828.2:n.105+20238C>T
ENST00000553370.5:c.-91+18860C>T	ENSP00000450925.1:n.-91+18860C>T
ENST00000553659.1:c.102+19236C>T	ENSP00000451086.1:n.102+19236C>T
ENST00000555616.5:c.-91+19463C>T	ENSP00000450903.1:n.-91+19463C>T
ENST00000556433.5:c.42+19503C>T	ENSP00000450764.1:n.42+19503C>T
ENST00000556571.1:c.36+19302C>T	ENSP00000452423.1:n.36+19302C>T
NM_001102.3:c.105+20238C>T	NP_001093.1:n.105+20238C>T
NM_001130004.1:c.105+20238C>T , LRG_886t1:c.105+20238C>T	NP_001123476.1:n.105+20238C>T
NM_001130005.1:c.105+20238C>T	NP_001123477.1:n.105+20238C>T
XM_011537269.1:c.105+20238C>T	XP_011535571.1:n.105+20238C>T
XM_011537270.1:c.42+19503C>T	XP_011535572.1:n.42+19503C>T
XM_011537271.1:c.42+19503C>T	XP_011535573.1:n.42+19503C>T
XM_017021722.2:c.105+20238C>T	XP_016877211.1:n.105+20238C>T
XM_017021723.2:c.105+20238C>T	XP_016877212.1:n.105+20238C>T
XM_017021725.1:c.42+19503C>T	XP_016877214.1:n.42+19503C>T
XM_017021726.2:c.42+19503C>T	XP_016877215.1:n.42+19503C>T
XM_017021727.2:c.105+20238C>T	XP_016877216.1:n.105+20238C>T
XM_017021728.2:c.42+19503C>T	XP_016877217.1:n.42+19503C>T
NM_001102.4:c.105+20238C>T	NP_001093.1:n.105+20238C>T
NM_001130005.2:c.105+20238C>T	NP_001123477.1:n.105+20238C>T
NM_001130004.2:c.105+20238C>T MANE Select	NP_001123476.1:n.105+20238C>T