Canonical Allele Identifier: CA366702901

Gene: ACTB

Linked Data

• ClinVar Variation Id: 2580833
• ClinVar RCV Id: RCV003330028
• MyVariant Identifiers: chr7:g.5568161G>C (hg19) ; chr7:g.5528530G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528530G>C , CM000669.2:g.5528530G>C	GRCh38
NC_000007.13:g.5568161G>C , CM000669.1:g.5568161G>C	GRCh37
NC_000007.12:g.5534687G>C	NCBI36
NG_007992.1:g.7072C>G , LRG_132:g.7072C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.553C>G	ENSP00000407473.2:p.Leu185Val
ENST00000473257.3:c.424C>G	ENSP00000501773.1:p.Leu142Val
ENST00000477812.2:n.1100C>G
ENST00000493945.6:c.553C>G	ENSP00000494269.1:p.Leu185Val
ENST00000642480.2:c.553C>G	ENSP00000495995.2:p.Leu185Val
ENST00000645576.1:c.505C>G	ENSP00000496101.1:p.Leu169Val
ENST00000646664.1:c.553C>G MANE Select	ENSP00000494750.1:p.Leu185Val
ENST00000647275.1:c.187C>G	ENSP00000494185.1:p.Leu63Val
ENST00000674681.1:c.553C>G	ENSP00000502821.1:p.Leu185Val
ENST00000675515.1:c.553C>G	ENSP00000501862.1:p.Leu185Val
ENST00000676189.1:c.*96C>G	ENSP00000502538.1:n.*96C>G
ENST00000676319.1:c.88-747C>G	ENSP00000502193.1:n.88-747C>G
ENST00000676397.1:c.553C>G	ENSP00000502286.1:p.Leu185Val
ENST00000331789.9:c.553C>G	ENSP00000349960.4:p.Leu185Val
ENST00000425660.5:c.*216C>G	ENSP00000409264.1:n.*216C>G
ENST00000462494.5:n.1078C>G
ENST00000473257.1:n.271C>G
ENST00000477812.1:n.760C>G
ENST00000484841.5:n.708C>G
ENST00000493945.5:n.559C>G
NM_001101.3:c.553C>G , LRG_132t1:c.553C>G	NP_001092.1:p.Leu185Val
XM_006715764.1:c.187C>G	XP_006715827.1:p.Leu63Val
NM_001101.4:c.553C>G	NP_001092.1:p.Leu185Val
NM_001101.5:c.553C>G MANE Select	NP_001092.1:p.Leu185Val