Canonical Allele Identifier: CA366702712

Gene: ACTB

Linked Data

• dbSNP Id: rs1784813421
• gnomAD v3: 7-5528509-T-G
• gnomAD v4: 7-5528509-T-G
• MyVariant Identifiers: chr7:g.5568140T>G (hg19) ; chr7:g.5528509T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.574A>C	ENSP00000407473.2:p.Ile192Leu
ENST00000473257.3:c.445A>C	ENSP00000501773.1:p.Ile149Leu
ENST00000477812.2:n.1121A>C
ENST00000493945.6:c.574A>C	ENSP00000494269.1:p.Ile192Leu
ENST00000642480.2:c.574A>C	ENSP00000495995.2:p.Ile192Leu
ENST00000645576.1:c.526A>C	ENSP00000496101.1:p.Ile176Leu
ENST00000646664.1:c.574A>C MANE Select	ENSP00000494750.1:p.Ile192Leu
ENST00000647275.1:c.208A>C	ENSP00000494185.1:p.Ile70Leu
ENST00000674681.1:c.574A>C	ENSP00000502821.1:p.Ile192Leu
ENST00000675515.1:c.574A>C	ENSP00000501862.1:p.Ile192Leu
ENST00000676189.1:c.*117A>C	ENSP00000502538.1:n.*117A>C
ENST00000676319.1:c.88-726A>C	ENSP00000502193.1:n.88-726A>C
ENST00000676397.1:c.574A>C	ENSP00000502286.1:p.Ile192Leu
ENST00000331789.9:c.574A>C	ENSP00000349960.4:p.Ile192Leu
ENST00000425660.5:c.*237A>C	ENSP00000409264.1:n.*237A>C
ENST00000462494.5:n.1099A>C
ENST00000473257.1:n.292A>C
ENST00000477812.1:n.781A>C
ENST00000484841.5:n.729A>C
ENST00000493945.5:n.580A>C
NM_001101.3:c.574A>C , LRG_132t1:c.574A>C	NP_001092.1:p.Ile192Leu
XM_006715764.1:c.208A>C	XP_006715827.1:p.Ile70Leu
NM_001101.4:c.574A>C	NP_001092.1:p.Ile192Leu
NM_001101.5:c.574A>C MANE Select	NP_001092.1:p.Ile192Leu