Canonical Allele Identifier: CA366699182
Gene: ACTB HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5527818T>G , CM000669.2:g.5527818T>G GRCh38
NC_000007.13:g.5567449T>G , CM000669.1:g.5567449T>G GRCh37
NC_000007.12:g.5533975T>G NCBI36
NG_007992.1:g.7784A>C , LRG_132:g.7784A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432588.6:c.*165A>C ENSP00000407473.2:n.*165A>C
ENST00000473257.3:c.929A>C ENSP00000501773.1:p.Gln310Pro
ENST00000477812.2:n.1605A>C
ENST00000493945.6:c.1058A>C ENSP00000494269.1:p.Gln353Pro
ENST00000642480.2:c.1058A>C ENSP00000495995.2:p.Gln353Pro
ENST00000646664.1:c.1058A>C MANE Select ENSP00000494750.1:p.Gln353Pro
ENST00000674681.1:c.1058A>C ENSP00000502821.1:p.Gln353Pro
ENST00000675515.1:c.1058A>C ENSP00000501862.1:p.Gln353Pro
ENST00000676189.1:c.*601A>C ENSP00000502538.1:n.*601A>C
ENST00000676319.1:c.88-35A>C ENSP00000502193.1:n.88-35A>C
ENST00000676397.1:c.*64A>C ENSP00000502286.1:n.*64A>C
ENST00000331789.9:c.1058A>C ENSP00000349960.4:p.Gln353Pro
ENST00000425660.5:c.*721A>C ENSP00000409264.1:n.*721A>C
ENST00000462494.5:n.1583A>C
ENST00000464611.1:n.169A>C
ENST00000493945.5:n.1159A>C
NM_001101.3:c.1058A>C , LRG_132t1:c.1058A>C NP_001092.1:p.Gln353Pro
XM_006715764.1:c.692A>C XP_006715827.1:p.Gln231Pro
NM_001101.4:c.1058A>C NP_001092.1:p.Gln353Pro
NM_001101.5:c.1058A>C MANE Select NP_001092.1:p.Gln353Pro