Canonical Allele Identifier: CA366703663
Community Standard Title: NM_001101.5(ACTB):c.439C>T (p.Arg147Cys)
Gene: ACTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5528644G>A , CM000669.2:g.5528644G>A GRCh38
NC_000007.13:g.5568275G>A , CM000669.1:g.5568275G>A GRCh37
NC_000007.12:g.5534801G>A NCBI36
NG_007992.1:g.6958C>T , LRG_132:g.6958C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001101.5:c.439C>T MANE Select NP_001092.1:p.Arg147Cys
ENST00000646664.1:c.439C>T MANE Select ENSP00000494750.1:p.Arg147Cys
NM_001101.3:c.439C>T , LRG_132t1:c.439C>T NP_001092.1:p.Arg147Cys
NM_001101.4:c.439C>T NP_001092.1:p.Arg147Cys
ENST00000331789.9:c.439C>T ENSP00000349960.4:p.Arg147Cys
ENST00000425660.5:c.*102C>T ENSP00000409264.1:n.*102C>T
ENST00000432588.5:c.439C>T ENSP00000407473.1:p.Arg147Cys
ENST00000432588.6:c.439C>T ENSP00000407473.2:p.Arg147Cys
ENST00000462494.5:n.964C>T
ENST00000473257.1:n.157C>T
ENST00000473257.3:c.310C>T ENSP00000501773.1:p.Arg104Cys
ENST00000477812.1:n.646C>T
ENST00000477812.2:n.986C>T
ENST00000484841.5:n.594C>T
ENST00000493945.5:n.445C>T
ENST00000493945.6:c.439C>T ENSP00000494269.1:p.Arg147Cys
ENST00000642480.2:c.439C>T ENSP00000495995.2:p.Arg147Cys
ENST00000645576.1:c.391C>T ENSP00000496101.1:p.Arg131Cys
ENST00000647275.1:c.73C>T ENSP00000494185.1:p.Arg25Cys
ENST00000674681.1:c.439C>T ENSP00000502821.1:p.Arg147Cys
ENST00000675515.1:c.439C>T ENSP00000501862.1:p.Arg147Cys
ENST00000676189.1:c.438C>T ENSP00000502538.1:p.Ala146=
ENST00000676319.1:c.88-861C>T ENSP00000502193.1:n.88-861C>T
ENST00000676397.1:c.439C>T ENSP00000502286.1:p.Arg147Cys
XM_006715764.1:c.73C>T XP_006715827.1:p.Arg25Cys