Canonical Allele Identifier: CA16042689

Gene: ACTB

Linked Data

• ClinVar Variation Id: 372616
• ClinVar RCV Id: RCV000414712
• dbSNP Id: rs1057517888
• MyVariant Identifiers: chr7:g.5567751G>A (hg19) ; chr7:g.5528120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528120G>A , CM000669.2:g.5528120G>A	GRCh38
NC_000007.13:g.5567751G>A , CM000669.1:g.5567751G>A	GRCh37
NC_000007.12:g.5534277G>A	NCBI36
NG_007992.1:g.7482C>T , LRG_132:g.7482C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.868C>T	ENSP00000407473.2:p.Arg290Cys
ENST00000473257.3:c.739C>T	ENSP00000501773.1:p.Arg247Cys
ENST00000477812.2:n.1415C>T
ENST00000493945.6:c.868C>T	ENSP00000494269.1:p.Arg290Cys
ENST00000642480.2:c.868C>T	ENSP00000495995.2:p.Arg290Cys
ENST00000645576.1:c.820C>T	ENSP00000496101.1:p.Arg274Cys
ENST00000646664.1:c.868C>T MANE Select	ENSP00000494750.1:p.Arg290Cys
ENST00000674681.1:c.868C>T	ENSP00000502821.1:p.Arg290Cys
ENST00000675515.1:c.868C>T	ENSP00000501862.1:p.Arg290Cys
ENST00000676189.1:c.*411C>T	ENSP00000502538.1:n.*411C>T
ENST00000676319.1:c.88-337C>T	ENSP00000502193.1:n.88-337C>T
ENST00000676397.1:c.868C>T	ENSP00000502286.1:p.Arg290Cys
ENST00000331789.9:c.868C>T	ENSP00000349960.4:p.Arg290Cys
ENST00000425660.5:c.*531C>T	ENSP00000409264.1:n.*531C>T
ENST00000462494.5:n.1393C>T
ENST00000484841.5:n.1023C>T
ENST00000493945.5:n.969C>T
NM_001101.3:c.868C>T , LRG_132t1:c.868C>T	NP_001092.1:p.Arg290Cys
XM_006715764.1:c.502C>T	XP_006715827.1:p.Arg168Cys
NM_001101.4:c.868C>T	NP_001092.1:p.Arg290Cys
NM_001101.5:c.868C>T MANE Select	NP_001092.1:p.Arg290Cys