Canonical Allele Identifier: CA390187130

Gene: ACTN1

Linked Data

• MyVariant Identifiers: chr14:g.69445686C>G (hg19) ; chr14:g.68978969C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68978969C>G , CM000676.2:g.68978969C>G	GRCh38
NC_000014.8:g.69445686C>G , CM000676.1:g.69445686C>G	GRCh37
NC_000014.7:g.68515439C>G	NCBI36
NG_029480.1:g.5398G>C , LRG_886:g.5398G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682130.1:n.376G>C
ENST00000682291.1:c.88G>C	ENSP00000507093.1:p.Glu30Gln
ENST00000682298.1:n.376G>C
ENST00000682331.1:c.88G>C	ENSP00000508329.1:p.Glu30Gln
ENST00000682378.1:n.376G>C
ENST00000682381.1:n.376G>C
ENST00000682559.1:c.88G>C	ENSP00000507271.1:p.Glu30Gln
ENST00000682602.1:n.182G>C
ENST00000683069.1:n.376G>C
ENST00000683198.1:c.88G>C	ENSP00000507889.1:p.Glu30Gln
ENST00000683261.1:n.376G>C
ENST00000683267.1:c.88G>C	ENSP00000508356.1:p.Glu30Gln
ENST00000683342.1:c.88G>C	ENSP00000508301.1:p.Glu30Gln
ENST00000683780.1:n.376G>C
ENST00000684146.1:n.376G>C
ENST00000684340.1:n.376G>C
ENST00000684598.1:c.88G>C	ENSP00000507785.1:p.Glu30Gln
ENST00000684638.1:c.88G>C	ENSP00000507609.1:p.Glu30Gln
ENST00000684639.1:c.88G>C	ENSP00000507653.1:p.Glu30Gln
ENST00000684713.1:c.88G>C	ENSP00000507155.1:p.Glu30Gln
ENST00000394419.9:c.88G>C MANE Select	ENSP00000377941.4:p.Glu30Gln
ENST00000679147.1:c.88G>C	ENSP00000504355.1:p.Glu30Gln
ENST00000193403.10:c.88G>C	ENSP00000193403.6:p.Glu30Gln
ENST00000394419.8:c.88G>C	ENSP00000377941.4:p.Glu30Gln
ENST00000438964.6:c.88G>C	ENSP00000414272.2:p.Glu30Gln
ENST00000538545.6:c.88G>C	ENSP00000439828.2:p.Glu30Gln
ENST00000556203.1:n.63G>C
NM_001102.3:c.88G>C	NP_001093.1:p.Glu30Gln
NM_001130004.1:c.88G>C , LRG_886t1:c.88G>C	NP_001123476.1:p.Glu30Gln
NM_001130005.1:c.88G>C	NP_001123477.1:p.Glu30Gln
XM_011537269.1:c.88G>C	XP_011535571.1:p.Glu30Gln
XM_017021722.2:c.88G>C	XP_016877211.1:p.Glu30Gln
XM_017021723.2:c.88G>C	XP_016877212.1:p.Glu30Gln
XM_017021727.2:c.88G>C	XP_016877216.1:p.Glu30Gln
NM_001102.4:c.88G>C	NP_001093.1:p.Glu30Gln
NM_001130005.2:c.88G>C	NP_001123477.1:p.Glu30Gln
NM_001130004.2:c.88G>C MANE Select	NP_001123476.1:p.Glu30Gln