Canonical Allele Identifier: CA366702948

Gene: ACTB

Linked Data

• ClinVar Variation Id: 989344
• ClinVar RCV Id: RCV001270849
• dbSNP Id: rs104894003
• MyVariant Identifiers: chr7:g.5568167G>C (hg19) ; chr7:g.5528536G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528536G>C , CM000669.2:g.5528536G>C	GRCh38
NC_000007.13:g.5568167G>C , CM000669.1:g.5568167G>C	GRCh37
NC_000007.12:g.5534693G>C	NCBI36
NG_007992.1:g.7066C>G , LRG_132:g.7066C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.547C>G	ENSP00000407473.2:p.Arg183Gly
ENST00000473257.3:c.418C>G	ENSP00000501773.1:p.Arg140Gly
ENST00000477812.2:n.1094C>G
ENST00000493945.6:c.547C>G	ENSP00000494269.1:p.Arg183Gly
ENST00000642480.2:c.547C>G	ENSP00000495995.2:p.Arg183Gly
ENST00000645576.1:c.499C>G	ENSP00000496101.1:p.Arg167Gly
ENST00000646664.1:c.547C>G MANE Select	ENSP00000494750.1:p.Arg183Gly
ENST00000647275.1:c.181C>G	ENSP00000494185.1:p.Arg61Gly
ENST00000674681.1:c.547C>G	ENSP00000502821.1:p.Arg183Gly
ENST00000675515.1:c.547C>G	ENSP00000501862.1:p.Arg183Gly
ENST00000676189.1:c.*90C>G	ENSP00000502538.1:n.*90C>G
ENST00000676319.1:c.88-753C>G	ENSP00000502193.1:n.88-753C>G
ENST00000676397.1:c.547C>G	ENSP00000502286.1:p.Arg183Gly
ENST00000331789.9:c.547C>G	ENSP00000349960.4:p.Arg183Gly
ENST00000425660.5:c.*210C>G	ENSP00000409264.1:n.*210C>G
ENST00000462494.5:n.1072C>G
ENST00000473257.1:n.265C>G
ENST00000477812.1:n.754C>G
ENST00000484841.5:n.702C>G
ENST00000493945.5:n.553C>G
NM_001101.3:c.547C>G , LRG_132t1:c.547C>G	NP_001092.1:p.Arg183Gly
XM_006715764.1:c.181C>G	XP_006715827.1:p.Arg61Gly
NM_001101.4:c.547C>G	NP_001092.1:p.Arg183Gly
NM_001101.5:c.547C>G MANE Select	NP_001092.1:p.Arg183Gly