Canonical Allele Identifier: CA219940

Gene: ACTB

Linked Data

• ClinVar Variation Id: 29599
• ClinVar RCV Id: RCV000022439 ; RCV000059721
• dbSNP Id: rs281875334
• MyVariant Identifiers: chr7:g.5568127C>T (hg19) ; chr7:g.5528496C>T (hg38)
• PubMed: PMID:10928857 ; PMID:22366783 ; PMID:26583190

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528496C>T , CM000669.2:g.5528496C>T	GRCh38
NC_000007.13:g.5568127C>T , CM000669.1:g.5568127C>T	GRCh37
NC_000007.12:g.5534653C>T	NCBI36
NG_007992.1:g.7106G>A , LRG_132:g.7106G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.587G>A	ENSP00000407473.2:p.Arg196His
ENST00000473257.3:c.458G>A	ENSP00000501773.1:p.Arg153His
ENST00000477812.2:n.1134G>A
ENST00000493945.6:c.587G>A	ENSP00000494269.1:p.Arg196His
ENST00000642480.2:c.587G>A	ENSP00000495995.2:p.Arg196His
ENST00000645576.1:c.539G>A	ENSP00000496101.1:p.Arg180His
ENST00000646664.1:c.587G>A MANE Select	ENSP00000494750.1:p.Arg196His
ENST00000647275.1:c.221G>A	ENSP00000494185.1:p.Arg74His
ENST00000674681.1:c.587G>A	ENSP00000502821.1:p.Arg196His
ENST00000675515.1:c.587G>A	ENSP00000501862.1:p.Arg196His
ENST00000676189.1:c.*130G>A	ENSP00000502538.1:n.*130G>A
ENST00000676319.1:c.88-713G>A	ENSP00000502193.1:n.88-713G>A
ENST00000676397.1:c.587G>A	ENSP00000502286.1:p.Arg196His
ENST00000331789.9:c.587G>A	ENSP00000349960.4:p.Arg196His
ENST00000425660.5:c.*250G>A	ENSP00000409264.1:n.*250G>A
ENST00000462494.5:n.1112G>A
ENST00000473257.1:n.305G>A
ENST00000477812.1:n.794G>A
ENST00000484841.5:n.742G>A
ENST00000493945.5:n.593G>A
NM_001101.3:c.587G>A , LRG_132t1:c.587G>A	NP_001092.1:p.Arg196His
XM_006715764.1:c.221G>A	XP_006715827.1:p.Arg74His
NM_001101.4:c.587G>A	NP_001092.1:p.Arg196His
NM_001101.5:c.587G>A MANE Select	NP_001092.1:p.Arg196His