Canonical Allele Identifier: CA366702709
Gene: ACTB HGNC NCBI

Linked Data

gnomAD v4: 7-5528509-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5528509T>C , CM000669.2:g.5528509T>C GRCh38
NC_000007.13:g.5568140T>C , CM000669.1:g.5568140T>C GRCh37
NC_000007.12:g.5534666T>C NCBI36
NG_007992.1:g.7093A>G , LRG_132:g.7093A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432588.6:c.574A>G ENSP00000407473.2:p.Ile192Val
ENST00000473257.3:c.445A>G ENSP00000501773.1:p.Ile149Val
ENST00000477812.2:n.1121A>G
ENST00000493945.6:c.574A>G ENSP00000494269.1:p.Ile192Val
ENST00000642480.2:c.574A>G ENSP00000495995.2:p.Ile192Val
ENST00000645576.1:c.526A>G ENSP00000496101.1:p.Ile176Val
ENST00000646664.1:c.574A>G MANE Select ENSP00000494750.1:p.Ile192Val
ENST00000647275.1:c.208A>G ENSP00000494185.1:p.Ile70Val
ENST00000674681.1:c.574A>G ENSP00000502821.1:p.Ile192Val
ENST00000675515.1:c.574A>G ENSP00000501862.1:p.Ile192Val
ENST00000676189.1:c.*117A>G ENSP00000502538.1:n.*117A>G
ENST00000676319.1:c.88-726A>G ENSP00000502193.1:n.88-726A>G
ENST00000676397.1:c.574A>G ENSP00000502286.1:p.Ile192Val
ENST00000331789.9:c.574A>G ENSP00000349960.4:p.Ile192Val
ENST00000425660.5:c.*237A>G ENSP00000409264.1:n.*237A>G
ENST00000462494.5:n.1099A>G
ENST00000473257.1:n.292A>G
ENST00000477812.1:n.781A>G
ENST00000484841.5:n.729A>G
ENST00000493945.5:n.580A>G
NM_001101.3:c.574A>G , LRG_132t1:c.574A>G NP_001092.1:p.Ile192Val
XM_006715764.1:c.208A>G XP_006715827.1:p.Ile70Val
NM_001101.4:c.574A>G NP_001092.1:p.Ile192Val
NM_001101.5:c.574A>G MANE Select NP_001092.1:p.Ile192Val