Canonical Allele Identifier: CA366702576

Gene: ACTB

Linked Data

• ClinVar Variation Id: 522017
• ClinVar RCV Id: RCV000624537 ; RCV001268477 ; RCV001305813
• dbSNP Id: rs1554329317
• MyVariant Identifiers: chr7:g.5568125C>T (hg19) ; chr7:g.5528494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528494C>T , CM000669.2:g.5528494C>T	GRCh38
NC_000007.13:g.5568125C>T , CM000669.1:g.5568125C>T	GRCh37
NC_000007.12:g.5534651C>T	NCBI36
NG_007992.1:g.7108G>A , LRG_132:g.7108G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.589G>A	ENSP00000407473.2:p.Gly197Ser
ENST00000473257.3:c.460G>A	ENSP00000501773.1:p.Gly154Ser
ENST00000477812.2:n.1136G>A
ENST00000493945.6:c.589G>A	ENSP00000494269.1:p.Gly197Ser
ENST00000642480.2:c.589G>A	ENSP00000495995.2:p.Gly197Ser
ENST00000645576.1:c.541G>A	ENSP00000496101.1:p.Gly181Ser
ENST00000646664.1:c.589G>A MANE Select	ENSP00000494750.1:p.Gly197Ser
ENST00000647275.1:c.223G>A	ENSP00000494185.1:p.Gly75Ser
ENST00000674681.1:c.589G>A	ENSP00000502821.1:p.Gly197Ser
ENST00000675515.1:c.589G>A	ENSP00000501862.1:p.Gly197Ser
ENST00000676189.1:c.*132G>A	ENSP00000502538.1:n.*132G>A
ENST00000676319.1:c.88-711G>A	ENSP00000502193.1:n.88-711G>A
ENST00000676397.1:c.589G>A	ENSP00000502286.1:p.Gly197Ser
ENST00000331789.9:c.589G>A	ENSP00000349960.4:p.Gly197Ser
ENST00000425660.5:c.*252G>A	ENSP00000409264.1:n.*252G>A
ENST00000462494.5:n.1114G>A
ENST00000473257.1:n.307G>A
ENST00000477812.1:n.796G>A
ENST00000484841.5:n.744G>A
ENST00000493945.5:n.595G>A
NM_001101.3:c.589G>A , LRG_132t1:c.589G>A	NP_001092.1:p.Gly197Ser
XM_006715764.1:c.223G>A	XP_006715827.1:p.Gly75Ser
NM_001101.4:c.589G>A	NP_001092.1:p.Gly197Ser
NM_001101.5:c.589G>A MANE Select	NP_001092.1:p.Gly197Ser