Canonical Allele Identifier: CA453639176

Gene: ACTB

Linked Data

• dbSNP Id: rs1784813542
• gnomAD v3: 7-5528516-G-C
• gnomAD v4: 7-5528516-G-C
• MyVariant Identifiers: chr7:g.5568147G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528516G>C , CM000669.2:g.5528516G>C	GRCh38
NC_000007.13:g.5568147G>C , CM000669.1:g.5568147G>C	GRCh37
NC_000007.12:g.5534673G>C	NCBI36
NG_007992.1:g.7086C>G , LRG_132:g.7086C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.567C>G	ENSP00000407473.2:p.Leu189=
ENST00000473257.3:c.438C>G	ENSP00000501773.1:p.Leu146=
ENST00000477812.2:n.1114C>G
ENST00000493945.6:c.567C>G	ENSP00000494269.1:p.Leu189=
ENST00000642480.2:c.567C>G	ENSP00000495995.2:p.Leu189=
ENST00000645576.1:c.519C>G	ENSP00000496101.1:p.Leu173=
ENST00000646664.1:c.567C>G MANE Select	ENSP00000494750.1:p.Leu189=
ENST00000647275.1:c.201C>G	ENSP00000494185.1:p.Leu67=
ENST00000674681.1:c.567C>G	ENSP00000502821.1:p.Leu189=
ENST00000675515.1:c.567C>G	ENSP00000501862.1:p.Leu189=
ENST00000676189.1:c.*110C>G	ENSP00000502538.1:n.*110C>G
ENST00000676319.1:c.88-733C>G	ENSP00000502193.1:n.88-733C>G
ENST00000676397.1:c.567C>G	ENSP00000502286.1:p.Leu189=
ENST00000331789.9:c.567C>G	ENSP00000349960.4:p.Leu189=
ENST00000425660.5:c.*230C>G	ENSP00000409264.1:n.*230C>G
ENST00000462494.5:n.1092C>G
ENST00000473257.1:n.285C>G
ENST00000477812.1:n.774C>G
ENST00000484841.5:n.722C>G
ENST00000493945.5:n.573C>G
NM_001101.3:c.567C>G , LRG_132t1:c.567C>G	NP_001092.1:p.Leu189=
XM_006715764.1:c.201C>G	XP_006715827.1:p.Leu67=
NM_001101.4:c.567C>G	NP_001092.1:p.Leu189=
NM_001101.5:c.567C>G MANE Select	NP_001092.1:p.Leu189=