Canonical Allele Identifier: CA213195

Gene: ACTB

Linked Data

• ClinVar Variation Id: 127172
• ClinVar RCV Id: RCV000116222 ; RCV000680682 ; RCV001533048 ; RCV003258667
• dbSNP Id: rs587779777
• MyVariant Identifiers: chr7:g.5568089C>T (hg19) ; chr7:g.5528458C>T (hg38)
• PubMed: PMID:25052316 ; PMID:26785492

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528458C>T , CM000669.2:g.5528458C>T	GRCh38
NC_000007.13:g.5568089C>T , CM000669.1:g.5568089C>T	GRCh37
NC_000007.12:g.5534615C>T	NCBI36
NG_007992.1:g.7144G>A , LRG_132:g.7144G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.625G>A	ENSP00000407473.2:p.Val209Met
ENST00000473257.3:c.496G>A	ENSP00000501773.1:p.Val166Met
ENST00000477812.2:n.1172G>A
ENST00000493945.6:c.625G>A	ENSP00000494269.1:p.Val209Met
ENST00000642480.2:c.625G>A	ENSP00000495995.2:p.Val209Met
ENST00000645576.1:c.577G>A	ENSP00000496101.1:p.Val193Met
ENST00000646664.1:c.625G>A MANE Select	ENSP00000494750.1:p.Val209Met
ENST00000647275.1:c.259G>A	ENSP00000494185.1:p.Val87Met
ENST00000674681.1:c.625G>A	ENSP00000502821.1:p.Val209Met
ENST00000675515.1:c.625G>A	ENSP00000501862.1:p.Val209Met
ENST00000676189.1:c.*168G>A	ENSP00000502538.1:n.*168G>A
ENST00000676319.1:c.88-675G>A	ENSP00000502193.1:n.88-675G>A
ENST00000676397.1:c.625G>A	ENSP00000502286.1:p.Val209Met
ENST00000331789.9:c.625G>A	ENSP00000349960.4:p.Val209Met
ENST00000425660.5:c.*288G>A	ENSP00000409264.1:n.*288G>A
ENST00000462494.5:n.1150G>A
ENST00000473257.1:n.343G>A
ENST00000484841.5:n.780G>A
ENST00000493945.5:n.631G>A
NM_001101.3:c.625G>A , LRG_132t1:c.625G>A	NP_001092.1:p.Val209Met
XM_006715764.1:c.259G>A	XP_006715827.1:p.Val87Met
NM_001101.4:c.625G>A	NP_001092.1:p.Val209Met
NM_001101.5:c.625G>A MANE Select	NP_001092.1:p.Val209Met