Canonical Allele Identifier: CA453639070

Gene: ACTB

Linked Data

• gnomAD v3: 7-5528570-G-C
• gnomAD v4: 7-5528570-G-C
• MyVariant Identifiers: chr7:g.5568201G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528570G>C , CM000669.2:g.5528570G>C	GRCh38
NC_000007.13:g.5568201G>C , CM000669.1:g.5568201G>C	GRCh37
NC_000007.12:g.5534727G>C	NCBI36
NG_007992.1:g.7032C>G , LRG_132:g.7032C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.513C>G	ENSP00000407473.2:p.Leu171=
ENST00000473257.3:c.384C>G	ENSP00000501773.1:p.Leu128=
ENST00000477812.2:n.1060C>G
ENST00000493945.6:c.513C>G	ENSP00000494269.1:p.Leu171=
ENST00000642480.2:c.513C>G	ENSP00000495995.2:p.Leu171=
ENST00000645576.1:c.465C>G	ENSP00000496101.1:p.Leu155=
ENST00000646664.1:c.513C>G MANE Select	ENSP00000494750.1:p.Leu171=
ENST00000647275.1:c.147C>G	ENSP00000494185.1:p.Leu49=
ENST00000674681.1:c.513C>G	ENSP00000502821.1:p.Leu171=
ENST00000675515.1:c.513C>G	ENSP00000501862.1:p.Leu171=
ENST00000676189.1:c.*56C>G	ENSP00000502538.1:n.*56C>G
ENST00000676319.1:c.88-787C>G	ENSP00000502193.1:n.88-787C>G
ENST00000676397.1:c.513C>G	ENSP00000502286.1:p.Leu171=
ENST00000331789.9:c.513C>G	ENSP00000349960.4:p.Leu171=
ENST00000425660.5:c.*176C>G	ENSP00000409264.1:n.*176C>G
ENST00000462494.5:n.1038C>G
ENST00000473257.1:n.231C>G
ENST00000477812.1:n.720C>G
ENST00000484841.5:n.668C>G
ENST00000493945.5:n.519C>G
NM_001101.3:c.513C>G , LRG_132t1:c.513C>G	NP_001092.1:p.Leu171=
XM_006715764.1:c.147C>G	XP_006715827.1:p.Leu49=
NM_001101.4:c.513C>G	NP_001092.1:p.Leu171=
NM_001101.5:c.513C>G MANE Select	NP_001092.1:p.Leu171=