Canonical Allele Identifier: CA366702736

Gene: ACTB

Linked Data

• dbSNP Id: rs1784813466
• gnomAD v3: 7-5528511-T-G
• gnomAD v4: 7-5528511-T-G
• MyVariant Identifiers: chr7:g.5568142T>G (hg19) ; chr7:g.5528511T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528511T>G , CM000669.2:g.5528511T>G	GRCh38
NC_000007.13:g.5568142T>G , CM000669.1:g.5568142T>G	GRCh37
NC_000007.12:g.5534668T>G	NCBI36
NG_007992.1:g.7091A>C , LRG_132:g.7091A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.572A>C	ENSP00000407473.2:p.Lys191Thr
ENST00000473257.3:c.443A>C	ENSP00000501773.1:p.Lys148Thr
ENST00000477812.2:n.1119A>C
ENST00000493945.6:c.572A>C	ENSP00000494269.1:p.Lys191Thr
ENST00000642480.2:c.572A>C	ENSP00000495995.2:p.Lys191Thr
ENST00000645576.1:c.524A>C	ENSP00000496101.1:p.Lys175Thr
ENST00000646664.1:c.572A>C MANE Select	ENSP00000494750.1:p.Lys191Thr
ENST00000647275.1:c.206A>C	ENSP00000494185.1:p.Lys69Thr
ENST00000674681.1:c.572A>C	ENSP00000502821.1:p.Lys191Thr
ENST00000675515.1:c.572A>C	ENSP00000501862.1:p.Lys191Thr
ENST00000676189.1:c.*115A>C	ENSP00000502538.1:n.*115A>C
ENST00000676319.1:c.88-728A>C	ENSP00000502193.1:n.88-728A>C
ENST00000676397.1:c.572A>C	ENSP00000502286.1:p.Lys191Thr
ENST00000331789.9:c.572A>C	ENSP00000349960.4:p.Lys191Thr
ENST00000425660.5:c.*235A>C	ENSP00000409264.1:n.*235A>C
ENST00000462494.5:n.1097A>C
ENST00000473257.1:n.290A>C
ENST00000477812.1:n.779A>C
ENST00000484841.5:n.727A>C
ENST00000493945.5:n.578A>C
NM_001101.3:c.572A>C , LRG_132t1:c.572A>C	NP_001092.1:p.Lys191Thr
XM_006715764.1:c.206A>C	XP_006715827.1:p.Lys69Thr
NM_001101.4:c.572A>C	NP_001092.1:p.Lys191Thr
NM_001101.5:c.572A>C MANE Select	NP_001092.1:p.Lys191Thr