Canonical Allele Identifier: CA4146847
Community Standard Title: NM_001101.5(ACTB):c.1017G>C (p.Val339=)
Gene: ACTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5527859C>G , CM000669.2:g.5527859C>G GRCh38
NC_000007.13:g.5567490C>G , CM000669.1:g.5567490C>G GRCh37
NC_000007.12:g.5534016C>G NCBI36
NG_007992.1:g.7743G>C , LRG_132:g.7743G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001101.5:c.1017G>C MANE Select NP_001092.1:p.Val339=
ENST00000646664.1:c.1017G>C MANE Select ENSP00000494750.1:p.Val339=
NM_001101.3:c.1017G>C , LRG_132t1:c.1017G>C NP_001092.1:p.Val339=
NM_001101.4:c.1017G>C NP_001092.1:p.Val339=
ENST00000331789.9:c.1017G>C ENSP00000349960.4:p.Val339=
ENST00000425660.5:c.*680G>C ENSP00000409264.1:n.*680G>C
ENST00000432588.6:c.*124G>C ENSP00000407473.2:n.*124G>C
ENST00000462494.5:n.1542G>C
ENST00000464611.1:n.128G>C
ENST00000473257.3:c.888G>C ENSP00000501773.1:p.Val296=
ENST00000477812.2:n.1564G>C
ENST00000493945.5:n.1118G>C
ENST00000493945.6:c.1017G>C ENSP00000494269.1:p.Val339=
ENST00000642480.2:c.1017G>C ENSP00000495995.2:p.Val339=
ENST00000674681.1:c.1017G>C ENSP00000502821.1:p.Val339=
ENST00000675515.1:c.1017G>C ENSP00000501862.1:p.Val339=
ENST00000676189.1:c.*560G>C ENSP00000502538.1:n.*560G>C
ENST00000676319.1:c.88-76G>C ENSP00000502193.1:n.88-76G>C
ENST00000676397.1:c.*23G>C ENSP00000502286.1:n.*23G>C
XM_006715764.1:c.651G>C XP_006715827.1:p.Val217=