Canonical Allele Identifier: CA366702509
Community Standard Title: NM_001101.5(ACTB):c.597C>A (p.Ser199Arg)
Gene: ACTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5528486G>T , CM000669.2:g.5528486G>T GRCh38
NC_000007.13:g.5568117G>T , CM000669.1:g.5568117G>T GRCh37
NC_000007.12:g.5534643G>T NCBI36
NG_007992.1:g.7116C>A , LRG_132:g.7116C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001101.5:c.597C>A MANE Select NP_001092.1:p.Ser199Arg
ENST00000646664.1:c.597C>A MANE Select ENSP00000494750.1:p.Ser199Arg
NM_001101.3:c.597C>A , LRG_132t1:c.597C>A NP_001092.1:p.Ser199Arg
NM_001101.4:c.597C>A NP_001092.1:p.Ser199Arg
ENST00000331789.9:c.597C>A ENSP00000349960.4:p.Ser199Arg
ENST00000425660.5:c.*260C>A ENSP00000409264.1:n.*260C>A
ENST00000432588.6:c.597C>A ENSP00000407473.2:p.Ser199Arg
ENST00000462494.5:n.1122C>A
ENST00000473257.1:n.315C>A
ENST00000473257.3:c.468C>A ENSP00000501773.1:p.Ser156Arg
ENST00000477812.1:n.804C>A
ENST00000477812.2:n.1144C>A
ENST00000484841.5:n.752C>A
ENST00000493945.5:n.603C>A
ENST00000493945.6:c.597C>A ENSP00000494269.1:p.Ser199Arg
ENST00000642480.2:c.597C>A ENSP00000495995.2:p.Ser199Arg
ENST00000645576.1:c.549C>A ENSP00000496101.1:p.Ser183Arg
ENST00000647275.1:c.231C>A ENSP00000494185.1:p.Ser77Arg
ENST00000674681.1:c.597C>A ENSP00000502821.1:p.Ser199Arg
ENST00000675515.1:c.597C>A ENSP00000501862.1:p.Ser199Arg
ENST00000676189.1:c.*140C>A ENSP00000502538.1:n.*140C>A
ENST00000676319.1:c.88-703C>A ENSP00000502193.1:n.88-703C>A
ENST00000676397.1:c.597C>A ENSP00000502286.1:p.Ser199Arg
XM_006715764.1:c.231C>A XP_006715827.1:p.Ser77Arg