Canonical Allele Identifier: CA4147130

Gene: ACTB

Linked Data

• dbSNP Id: rs755437923
• ExAC: 7:5568976 C / G
• gnomAD v2: 7-5568976-C-G
• gnomAD v3: 7-5529345-C-G
• gnomAD v4: 7-5529345-C-G
• MyVariant Identifiers: chr7:g.5568976C>G (hg19) ; chr7:g.5529345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5529345C>G , CM000669.2:g.5529345C>G	GRCh38
NC_000007.13:g.5568976C>G , CM000669.1:g.5568976C>G	GRCh37
NC_000007.12:g.5535502C>G	NCBI36
NG_007992.1:g.6257G>C , LRG_132:g.6257G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417101.2:c.179G>C	ENSP00000399487.2:p.Ser60Thr
ENST00000432588.6:c.179G>C	ENSP00000407473.2:p.Ser60Thr
ENST00000473257.3:c.50G>C	ENSP00000501773.1:p.Ser17Thr
ENST00000477812.2:n.386G>C
ENST00000484841.6:n.333G>C
ENST00000493945.6:c.179G>C	ENSP00000494269.1:p.Ser60Thr
ENST00000642480.2:c.179G>C	ENSP00000495995.2:p.Ser60Thr
ENST00000645025.1:n.262G>C
ENST00000645576.1:c.179G>C	ENSP00000496101.1:p.Ser60Thr
ENST00000646664.1:c.179G>C MANE Select	ENSP00000494750.1:p.Ser60Thr
ENST00000647275.1:c.-3-626G>C	ENSP00000494185.1:n.-3-626G>C
ENST00000674681.1:c.179G>C	ENSP00000502821.1:p.Ser60Thr
ENST00000675515.1:c.179G>C	ENSP00000501862.1:p.Ser60Thr
ENST00000676189.1:c.179G>C	ENSP00000502538.1:p.Ser60Thr
ENST00000676319.1:c.87+226G>C	ENSP00000502193.1:n.87+226G>C
ENST00000676397.1:c.179G>C	ENSP00000502286.1:p.Ser60Thr
ENST00000331789.9:c.179G>C	ENSP00000349960.4:p.Ser60Thr
ENST00000414620.1:c.179G>C	ENSP00000401032.1:p.Ser60Thr
ENST00000417101.1:c.188G>C	ENSP00000399487.1:p.Ser63Thr
ENST00000425660.5:c.179G>C	ENSP00000409264.1:p.Ser60Thr
ENST00000432588.5:c.179G>C	ENSP00000407473.1:p.Ser60Thr
ENST00000443528.5:c.179G>C	ENSP00000393951.1:p.Ser60Thr
ENST00000462494.5:n.263G>C
ENST00000473257.1:n.82-626G>C
ENST00000477812.1:n.386G>C
ENST00000480301.1:n.379G>C
ENST00000484841.5:n.334G>C
ENST00000493945.5:n.185G>C
NM_001101.3:c.179G>C , LRG_132t1:c.179G>C	NP_001092.1:p.Ser60Thr
NM_001101.4:c.179G>C	NP_001092.1:p.Ser60Thr
NM_001101.5:c.179G>C MANE Select	NP_001092.1:p.Ser60Thr