Canonical Allele Identifier: CA345288
Gene: ACTB HGNC NCBI

Linked Data

ClinVar Variation Id: 66051
ClinVar RCV Id: RCV000056289 RCV003441738
dbSNP Id: rs397515470
MyVariant Identifiers: chr7:g.5568806C>T (hg19) chr7:g.5529175C>T (hg38)
PubMed: PMID:23649928 PMID:25052316 PMID:26583190
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5529175C>T , CM000669.2:g.5529175C>T GRCh38
NC_000007.13:g.5568806C>T , CM000669.1:g.5568806C>T GRCh37
NC_000007.12:g.5535332C>T NCBI36
NG_007992.1:g.6427G>A , LRG_132:g.6427G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432588.6:c.349G>A ENSP00000407473.2:p.Glu117Lys
ENST00000473257.3:c.220G>A ENSP00000501773.1:p.Glu74Lys
ENST00000477812.2:n.556G>A
ENST00000484841.6:n.503G>A
ENST00000493945.6:c.349G>A ENSP00000494269.1:p.Glu117Lys
ENST00000642480.2:c.349G>A ENSP00000495995.2:p.Glu117Lys
ENST00000645025.1:n.432G>A
ENST00000645576.1:c.349G>A ENSP00000496101.1:p.Glu117Lys
ENST00000646664.1:c.349G>A MANE Select ENSP00000494750.1:p.Glu117Lys
ENST00000647275.1:c.-3-456G>A ENSP00000494185.1:n.-3-456G>A
ENST00000674681.1:c.349G>A ENSP00000502821.1:p.Glu117Lys
ENST00000675515.1:c.349G>A ENSP00000501862.1:p.Glu117Lys
ENST00000676189.1:c.349G>A ENSP00000502538.1:p.Glu117Lys
ENST00000676319.1:c.87+396G>A ENSP00000502193.1:n.87+396G>A
ENST00000676397.1:c.349G>A ENSP00000502286.1:p.Glu117Lys
ENST00000331789.9:c.349G>A ENSP00000349960.4:p.Glu117Lys
ENST00000425660.5:c.349G>A ENSP00000409264.1:p.Glu117Lys
ENST00000432588.5:c.349G>A ENSP00000407473.1:p.Glu117Lys
ENST00000462494.5:n.433G>A
ENST00000473257.1:n.82-456G>A
ENST00000477812.1:n.556G>A
ENST00000480301.1:n.549G>A
ENST00000484841.5:n.504G>A
ENST00000493945.5:n.355G>A
NM_001101.3:c.349G>A , LRG_132t1:c.349G>A NP_001092.1:p.Glu117Lys
XM_006715764.1:c.-358G>A XP_006715827.1:n.-358G>A
NM_001101.4:c.349G>A NP_001092.1:p.Glu117Lys
NM_001101.5:c.349G>A MANE Select NP_001092.1:p.Glu117Lys
Search 100 bp 5'
Search 100 bp 3'