Canonical Allele Identifier: CA366699228
Community Standard Title: NM_001101.5(ACTB):c.1045C>G (p.Leu349Val)
Gene: ACTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5527831G>C , CM000669.2:g.5527831G>C GRCh38
NC_000007.13:g.5567462G>C , CM000669.1:g.5567462G>C GRCh37
NC_000007.12:g.5533988G>C NCBI36
NG_007992.1:g.7771C>G , LRG_132:g.7771C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001101.5:c.1045C>G MANE Select NP_001092.1:p.Leu349Val
ENST00000646664.1:c.1045C>G MANE Select ENSP00000494750.1:p.Leu349Val
NM_001101.3:c.1045C>G , LRG_132t1:c.1045C>G NP_001092.1:p.Leu349Val
NM_001101.4:c.1045C>G NP_001092.1:p.Leu349Val
ENST00000331789.9:c.1045C>G ENSP00000349960.4:p.Leu349Val
ENST00000425660.5:c.*708C>G ENSP00000409264.1:n.*708C>G
ENST00000432588.6:c.*152C>G ENSP00000407473.2:n.*152C>G
ENST00000462494.5:n.1570C>G
ENST00000464611.1:n.156C>G
ENST00000473257.3:c.916C>G ENSP00000501773.1:p.Leu306Val
ENST00000477812.2:n.1592C>G
ENST00000493945.5:n.1146C>G
ENST00000493945.6:c.1045C>G ENSP00000494269.1:p.Leu349Val
ENST00000642480.2:c.1045C>G ENSP00000495995.2:p.Leu349Val
ENST00000674681.1:c.1045C>G ENSP00000502821.1:p.Leu349Val
ENST00000675515.1:c.1045C>G ENSP00000501862.1:p.Leu349Val
ENST00000676189.1:c.*588C>G ENSP00000502538.1:n.*588C>G
ENST00000676319.1:c.88-48C>G ENSP00000502193.1:n.88-48C>G
ENST00000676397.1:c.*51C>G ENSP00000502286.1:n.*51C>G
XM_006715764.1:c.679C>G XP_006715827.1:p.Leu227Val