Canonical Allele Identifier: CA347697

Gene: ACTB

Linked Data

• ClinVar Variation Id: 218132
• ClinVar RCV Id: RCV001789615 ; RCV003324520
• dbSNP Id: rs368352689
• MyVariant Identifiers: chr7:g.5567417C>T (hg19) ; chr7:g.5527786C>T (hg38)
• PubMed: PMID:10411937 ; PMID:26583190

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5527786C>T , CM000669.2:g.5527786C>T	GRCh38
NC_000007.13:g.5567417C>T , CM000669.1:g.5567417C>T	GRCh37
NC_000007.12:g.5533943C>T	NCBI36
NG_007992.1:g.7816G>A , LRG_132:g.7816G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000473257.3:c.961G>A	ENSP00000501773.1:p.Glu321Lys
ENST00000477812.2:n.1637G>A
ENST00000493945.6:c.1090G>A	ENSP00000494269.1:p.Glu364Lys
ENST00000642480.2:c.1090G>A	ENSP00000495995.2:p.Glu364Lys
ENST00000646664.1:c.1090G>A MANE Select	ENSP00000494750.1:p.Glu364Lys
ENST00000674681.1:c.1090G>A	ENSP00000502821.1:p.Glu364Lys
ENST00000675515.1:c.1090G>A	ENSP00000501862.1:p.Glu364Lys
ENST00000676189.1:c.*633G>A	ENSP00000502538.1:n.*633G>A
ENST00000676319.1:c.88-3G>A	ENSP00000502193.1:n.88-3G>A
ENST00000676397.1:c.*96G>A	ENSP00000502286.1:n.*96G>A
ENST00000331789.9:c.1090G>A	ENSP00000349960.4:p.Glu364Lys
ENST00000425660.5:c.*753G>A	ENSP00000409264.1:n.*753G>A
ENST00000462494.5:n.1615G>A
ENST00000464611.1:n.201G>A
ENST00000493945.5:n.1191G>A
NM_001101.3:c.1090G>A , LRG_132t1:c.1090G>A	NP_001092.1:p.Glu364Lys
XM_006715764.1:c.724G>A	XP_006715827.1:p.Glu242Lys
NM_001101.4:c.1090G>A	NP_001092.1:p.Glu364Lys
NM_001101.5:c.1090G>A MANE Select	NP_001092.1:p.Glu364Lys