Canonical Allele Identifier: CA10602958
Community Standard Title: NM_001101.5(ACTB):c.1021A>C (p.Ile341Leu)
Gene: ACTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5527855T>G , CM000669.2:g.5527855T>G GRCh38
NC_000007.13:g.5567486T>G , CM000669.1:g.5567486T>G GRCh37
NC_000007.12:g.5534012T>G NCBI36
NG_007992.1:g.7747A>C , LRG_132:g.7747A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001101.5:c.1021A>C MANE Select NP_001092.1:p.Ile341Leu
ENST00000646664.1:c.1021A>C MANE Select ENSP00000494750.1:p.Ile341Leu
NM_001101.3:c.1021A>C , LRG_132t1:c.1021A>C NP_001092.1:p.Ile341Leu
NM_001101.4:c.1021A>C NP_001092.1:p.Ile341Leu
ENST00000331789.9:c.1021A>C ENSP00000349960.4:p.Ile341Leu
ENST00000425660.5:c.*684A>C ENSP00000409264.1:n.*684A>C
ENST00000432588.6:c.*128A>C ENSP00000407473.2:n.*128A>C
ENST00000462494.5:n.1546A>C
ENST00000464611.1:n.132A>C
ENST00000473257.3:c.892A>C ENSP00000501773.1:p.Ile298Leu
ENST00000477812.2:n.1568A>C
ENST00000493945.5:n.1122A>C
ENST00000493945.6:c.1021A>C ENSP00000494269.1:p.Ile341Leu
ENST00000642480.2:c.1021A>C ENSP00000495995.2:p.Ile341Leu
ENST00000674681.1:c.1021A>C ENSP00000502821.1:p.Ile341Leu
ENST00000675515.1:c.1021A>C ENSP00000501862.1:p.Ile341Leu
ENST00000676189.1:c.*564A>C ENSP00000502538.1:n.*564A>C
ENST00000676319.1:c.88-72A>C ENSP00000502193.1:n.88-72A>C
ENST00000676397.1:c.*27A>C ENSP00000502286.1:n.*27A>C
XM_006715764.1:c.655A>C XP_006715827.1:p.Ile219Leu