Canonical Allele Identifier: CA366703447

Gene: ACTB

Linked Data

• ClinVar Variation Id: 1695182
• ClinVar RCV Id: RCV002263432
• dbSNP Id: rs2128241291
• MyVariant Identifiers: chr7:g.5568238A>G (hg19) ; chr7:g.5528607A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528607A>G , CM000669.2:g.5528607A>G	GRCh38
NC_000007.13:g.5568238A>G , CM000669.1:g.5568238A>G	GRCh37
NC_000007.12:g.5534764A>G	NCBI36
NG_007992.1:g.6995T>C , LRG_132:g.6995T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.476T>C	ENSP00000407473.2:p.Val159Ala
ENST00000473257.3:c.347T>C	ENSP00000501773.1:p.Val116Ala
ENST00000477812.2:n.1023T>C
ENST00000493945.6:c.476T>C	ENSP00000494269.1:p.Val159Ala
ENST00000642480.2:c.476T>C	ENSP00000495995.2:p.Val159Ala
ENST00000645576.1:c.428T>C	ENSP00000496101.1:p.Val143Ala
ENST00000646664.1:c.476T>C MANE Select	ENSP00000494750.1:p.Val159Ala
ENST00000647275.1:c.110T>C	ENSP00000494185.1:p.Val37Ala
ENST00000674681.1:c.476T>C	ENSP00000502821.1:p.Val159Ala
ENST00000675515.1:c.476T>C	ENSP00000501862.1:p.Val159Ala
ENST00000676189.1:c.*19T>C	ENSP00000502538.1:n.*19T>C
ENST00000676319.1:c.88-824T>C	ENSP00000502193.1:n.88-824T>C
ENST00000676397.1:c.476T>C	ENSP00000502286.1:p.Val159Ala
ENST00000331789.9:c.476T>C	ENSP00000349960.4:p.Val159Ala
ENST00000425660.5:c.*139T>C	ENSP00000409264.1:n.*139T>C
ENST00000432588.5:c.476T>C	ENSP00000407473.1:p.Val159Ala
ENST00000462494.5:n.1001T>C
ENST00000473257.1:n.194T>C
ENST00000477812.1:n.683T>C
ENST00000484841.5:n.631T>C
ENST00000493945.5:n.482T>C
NM_001101.3:c.476T>C , LRG_132t1:c.476T>C	NP_001092.1:p.Val159Ala
XM_006715764.1:c.110T>C	XP_006715827.1:p.Val37Ala
NM_001101.4:c.476T>C	NP_001092.1:p.Val159Ala
NM_001101.5:c.476T>C MANE Select	NP_001092.1:p.Val159Ala