Canonical Allele Identifier: CA366702106

Gene: ACTB

Linked Data

• ClinVar Variation Id: 2280571
• ClinVar RCV Id: RCV002818712 ; RCV003777815
• gnomAD v4: 7-5528398-T-C
• MyVariant Identifiers: chr7:g.5568029T>C (hg19) ; chr7:g.5528398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528398T>C , CM000669.2:g.5528398T>C	GRCh38
NC_000007.13:g.5568029T>C , CM000669.1:g.5568029T>C	GRCh37
NC_000007.12:g.5534555T>C	NCBI36
NG_007992.1:g.7204A>G , LRG_132:g.7204A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.685A>G	ENSP00000407473.2:p.Thr229Ala
ENST00000473257.3:c.556A>G	ENSP00000501773.1:p.Thr186Ala
ENST00000477812.2:n.1232A>G
ENST00000493945.6:c.685A>G	ENSP00000494269.1:p.Thr229Ala
ENST00000642480.2:c.685A>G	ENSP00000495995.2:p.Thr229Ala
ENST00000645576.1:c.637A>G	ENSP00000496101.1:p.Thr213Ala
ENST00000646664.1:c.685A>G MANE Select	ENSP00000494750.1:p.Thr229Ala
ENST00000647275.1:c.319A>G	ENSP00000494185.1:p.Thr107Ala
ENST00000674681.1:c.685A>G	ENSP00000502821.1:p.Thr229Ala
ENST00000675515.1:c.685A>G	ENSP00000501862.1:p.Thr229Ala
ENST00000676189.1:c.*228A>G	ENSP00000502538.1:n.*228A>G
ENST00000676319.1:c.88-615A>G	ENSP00000502193.1:n.88-615A>G
ENST00000676397.1:c.685A>G	ENSP00000502286.1:p.Thr229Ala
ENST00000331789.9:c.685A>G	ENSP00000349960.4:p.Thr229Ala
ENST00000425660.5:c.*348A>G	ENSP00000409264.1:n.*348A>G
ENST00000462494.5:n.1210A>G
ENST00000473257.1:n.403A>G
ENST00000484841.5:n.840A>G
ENST00000493945.5:n.691A>G
NM_001101.3:c.685A>G , LRG_132t1:c.685A>G	NP_001092.1:p.Thr229Ala
XM_006715764.1:c.319A>G	XP_006715827.1:p.Thr107Ala
NM_001101.4:c.685A>G	NP_001092.1:p.Thr229Ala
NM_001101.5:c.685A>G MANE Select	NP_001092.1:p.Thr229Ala