Canonical Allele Identifier: CA16042680

Gene: ACTB

Linked Data

• ClinVar Variation Id: 372965
• ClinVar RCV Id: RCV000414679
• dbSNP Id: rs886041790
• MyVariant Identifiers: chr7:g.5567487C>G (hg19) ; chr7:g.5527856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5527856C>G , CM000669.2:g.5527856C>G	GRCh38
NC_000007.13:g.5567487C>G , CM000669.1:g.5567487C>G	GRCh37
NC_000007.12:g.5534013C>G	NCBI36
NG_007992.1:g.7746G>C , LRG_132:g.7746G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.*127G>C	ENSP00000407473.2:n.*127G>C
ENST00000473257.3:c.891G>C	ENSP00000501773.1:p.Trp297Cys
ENST00000477812.2:n.1567G>C
ENST00000493945.6:c.1020G>C	ENSP00000494269.1:p.Trp340Cys
ENST00000642480.2:c.1020G>C	ENSP00000495995.2:p.Trp340Cys
ENST00000646664.1:c.1020G>C MANE Select	ENSP00000494750.1:p.Trp340Cys
ENST00000674681.1:c.1020G>C	ENSP00000502821.1:p.Trp340Cys
ENST00000675515.1:c.1020G>C	ENSP00000501862.1:p.Trp340Cys
ENST00000676189.1:c.*563G>C	ENSP00000502538.1:n.*563G>C
ENST00000676319.1:c.88-73G>C	ENSP00000502193.1:n.88-73G>C
ENST00000676397.1:c.*26G>C	ENSP00000502286.1:n.*26G>C
ENST00000331789.9:c.1020G>C	ENSP00000349960.4:p.Trp340Cys
ENST00000425660.5:c.*683G>C	ENSP00000409264.1:n.*683G>C
ENST00000462494.5:n.1545G>C
ENST00000464611.1:n.131G>C
ENST00000493945.5:n.1121G>C
NM_001101.3:c.1020G>C , LRG_132t1:c.1020G>C	NP_001092.1:p.Trp340Cys
XM_006715764.1:c.654G>C	XP_006715827.1:p.Trp218Cys
NM_001101.4:c.1020G>C	NP_001092.1:p.Trp340Cys
NM_001101.5:c.1020G>C MANE Select	NP_001092.1:p.Trp340Cys