Canonical Allele Identifier: CA366701050

Gene: ACTB

Linked Data

• ClinVar Variation Id: 264642
• ClinVar RCV Id: RCV000508667
• dbSNP Id: rs1554329269
• MyVariant Identifiers: chr7:g.5567912C>G (hg19) ; chr7:g.5528281C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528281C>G , CM000669.2:g.5528281C>G	GRCh38
NC_000007.13:g.5567912C>G , CM000669.1:g.5567912C>G	GRCh37
NC_000007.12:g.5534438C>G	NCBI36
NG_007992.1:g.7321G>C , LRG_132:g.7321G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.802G>C	ENSP00000407473.2:p.Gly268Arg
ENST00000473257.3:c.673G>C	ENSP00000501773.1:p.Gly225Arg
ENST00000477812.2:n.1349G>C
ENST00000493945.6:c.802G>C	ENSP00000494269.1:p.Gly268Arg
ENST00000642480.2:c.802G>C	ENSP00000495995.2:p.Gly268Arg
ENST00000645576.1:c.754G>C	ENSP00000496101.1:p.Gly252Arg
ENST00000646664.1:c.802G>C MANE Select	ENSP00000494750.1:p.Gly268Arg
ENST00000647275.1:c.436G>C	ENSP00000494185.1:p.Gly146Arg
ENST00000674681.1:c.802G>C	ENSP00000502821.1:p.Gly268Arg
ENST00000675515.1:c.802G>C	ENSP00000501862.1:p.Gly268Arg
ENST00000676189.1:c.*345G>C	ENSP00000502538.1:n.*345G>C
ENST00000676319.1:c.88-498G>C	ENSP00000502193.1:n.88-498G>C
ENST00000676397.1:c.802G>C	ENSP00000502286.1:p.Gly268Arg
ENST00000331789.9:c.802G>C	ENSP00000349960.4:p.Gly268Arg
ENST00000425660.5:c.*465G>C	ENSP00000409264.1:n.*465G>C
ENST00000462494.5:n.1327G>C
ENST00000473257.1:n.520G>C
ENST00000484841.5:n.957G>C
ENST00000493945.5:n.808G>C
NM_001101.3:c.802G>C , LRG_132t1:c.802G>C	NP_001092.1:p.Gly268Arg
XM_006715764.1:c.436G>C	XP_006715827.1:p.Gly146Arg
NM_001101.4:c.802G>C	NP_001092.1:p.Gly268Arg
NM_001101.5:c.802G>C MANE Select	NP_001092.1:p.Gly268Arg