Canonical Allele Identifier: CA366702526
Community Standard Title: NM_001101.5(ACTB):c.595A>C (p.Ser199Arg)
Gene: ACTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5528488T>G , CM000669.2:g.5528488T>G GRCh38
NC_000007.13:g.5568119T>G , CM000669.1:g.5568119T>G GRCh37
NC_000007.12:g.5534645T>G NCBI36
NG_007992.1:g.7114A>C , LRG_132:g.7114A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001101.5:c.595A>C MANE Select NP_001092.1:p.Ser199Arg
ENST00000646664.1:c.595A>C MANE Select ENSP00000494750.1:p.Ser199Arg
NM_001101.3:c.595A>C , LRG_132t1:c.595A>C NP_001092.1:p.Ser199Arg
NM_001101.4:c.595A>C NP_001092.1:p.Ser199Arg
ENST00000331789.9:c.595A>C ENSP00000349960.4:p.Ser199Arg
ENST00000425660.5:c.*258A>C ENSP00000409264.1:n.*258A>C
ENST00000432588.6:c.595A>C ENSP00000407473.2:p.Ser199Arg
ENST00000462494.5:n.1120A>C
ENST00000473257.1:n.313A>C
ENST00000473257.3:c.466A>C ENSP00000501773.1:p.Ser156Arg
ENST00000477812.1:n.802A>C
ENST00000477812.2:n.1142A>C
ENST00000484841.5:n.750A>C
ENST00000493945.5:n.601A>C
ENST00000493945.6:c.595A>C ENSP00000494269.1:p.Ser199Arg
ENST00000642480.2:c.595A>C ENSP00000495995.2:p.Ser199Arg
ENST00000645576.1:c.547A>C ENSP00000496101.1:p.Ser183Arg
ENST00000647275.1:c.229A>C ENSP00000494185.1:p.Ser77Arg
ENST00000674681.1:c.595A>C ENSP00000502821.1:p.Ser199Arg
ENST00000675515.1:c.595A>C ENSP00000501862.1:p.Ser199Arg
ENST00000676189.1:c.*138A>C ENSP00000502538.1:n.*138A>C
ENST00000676319.1:c.88-705A>C ENSP00000502193.1:n.88-705A>C
ENST00000676397.1:c.595A>C ENSP00000502286.1:p.Ser199Arg
XM_006715764.1:c.229A>C XP_006715827.1:p.Ser77Arg