Canonical Allele Identifier: CA405692948

Gene: ACTN4

Linked Data

• MyVariant Identifiers: chr19:g.39198771T>G (hg19) ; chr19:g.38708131T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38708131T>G , CM000681.2:g.38708131T>G	GRCh38
NC_000019.9:g.39198771T>G , CM000681.1:g.39198771T>G	GRCh37
NC_000019.8:g.43890611T>G	NCBI36
NG_007082.2:g.65445T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000440400.3:c.587T>G	ENSP00000398393.2:p.Leu196Arg
ENST00000697712.1:c.446T>G	ENSP00000513410.1:p.Leu149Arg
ENST00000252699.7:c.587T>G MANE Select	ENSP00000252699.2:p.Leu196Arg
ENST00000424234.7:c.587T>G	ENSP00000411187.4:p.Leu196Arg
ENST00000440400.2:c.587T>G	ENSP00000398393.2:p.Leu196Arg
ENST00000252699.6:c.587T>G	ENSP00000252699.2:p.Leu196Arg
ENST00000390009.7:c.163-6338T>G	ENSP00000439497.1:n.163-6338T>G
ENST00000424234.6:c.272+7422T>G	ENSP00000411187.3:n.272+7422T>G
ENST00000495553.1:n.493T>G
ENST00000588618.5:n.684T>G
ENST00000589528.1:c.285+7417T>G
NM_004924.4:c.587T>G	NP_004915.2:p.Leu196Arg
XM_005259281.3:c.587T>G	XP_005259338.1:p.Leu196Arg
XM_005259282.3:c.587T>G	XP_005259339.1:p.Leu196Arg
XM_006723406.1:c.587T>G	XP_006723469.1:p.Leu196Arg
NM_001322033.1:c.587T>G	NP_001308962.1:p.Leu196Arg
NM_004924.5:c.587T>G	NP_004915.2:p.Leu196Arg
XM_005259281.5:c.587T>G	XP_005259338.1:p.Leu196Arg
XM_006723406.3:c.587T>G	XP_006723469.1:p.Leu196Arg
XM_017027331.2:c.587T>G	XP_016882820.1:p.Leu196Arg
XR_001753937.1:n.123-5967A>C
NM_004924.6:c.587T>G MANE Select	NP_004915.2:p.Leu196Arg
NM_001322033.2:c.587T>G	NP_001308962.1:p.Leu196Arg