Canonical Allele Identifier: CA10603053

Gene: ACTB

Linked Data

• ClinVar Variation Id: 279997
• ClinVar RCV Id: RCV000370520 ; RCV001261369 ; RCV002470832
• dbSNP Id: rs886041309
• COSMIC: COSM1313189
• MyVariant Identifiers: chr7:g.5567464G>A (hg19) ; chr7:g.5527833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5527833G>A , CM000669.2:g.5527833G>A	GRCh38
NC_000007.13:g.5567464G>A , CM000669.1:g.5567464G>A	GRCh37
NC_000007.12:g.5533990G>A	NCBI36
NG_007992.1:g.7769C>T , LRG_132:g.7769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.*150C>T	ENSP00000407473.2:n.*150C>T
ENST00000473257.3:c.914C>T	ENSP00000501773.1:p.Ser305Leu
ENST00000477812.2:n.1590C>T
ENST00000493945.6:c.1043C>T	ENSP00000494269.1:p.Ser348Leu
ENST00000642480.2:c.1043C>T	ENSP00000495995.2:p.Ser348Leu
ENST00000646664.1:c.1043C>T MANE Select	ENSP00000494750.1:p.Ser348Leu
ENST00000674681.1:c.1043C>T	ENSP00000502821.1:p.Ser348Leu
ENST00000675515.1:c.1043C>T	ENSP00000501862.1:p.Ser348Leu
ENST00000676189.1:c.*586C>T	ENSP00000502538.1:n.*586C>T
ENST00000676319.1:c.88-50C>T	ENSP00000502193.1:n.88-50C>T
ENST00000676397.1:c.*49C>T	ENSP00000502286.1:n.*49C>T
ENST00000331789.9:c.1043C>T	ENSP00000349960.4:p.Ser348Leu
ENST00000425660.5:c.*706C>T	ENSP00000409264.1:n.*706C>T
ENST00000462494.5:n.1568C>T
ENST00000464611.1:n.154C>T
ENST00000493945.5:n.1144C>T
NM_001101.3:c.1043C>T , LRG_132t1:c.1043C>T	NP_001092.1:p.Ser348Leu
XM_006715764.1:c.677C>T	XP_006715827.1:p.Ser226Leu
NM_001101.4:c.1043C>T	NP_001092.1:p.Ser348Leu
NM_001101.5:c.1043C>T MANE Select	NP_001092.1:p.Ser348Leu