Canonical Allele Identifier: CA366702703

Gene: ACTB

Linked Data

• ClinVar Variation Id: 636913
• ClinVar RCV Id: RCV000788880
• dbSNP Id: rs1584262037
• MyVariant Identifiers: chr7:g.5568139A>T (hg19) ; chr7:g.5528508A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528508A>T , CM000669.2:g.5528508A>T	GRCh38
NC_000007.13:g.5568139A>T , CM000669.1:g.5568139A>T	GRCh37
NC_000007.12:g.5534665A>T	NCBI36
NG_007992.1:g.7094T>A , LRG_132:g.7094T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.575T>A	ENSP00000407473.2:p.Ile192Asn
ENST00000473257.3:c.446T>A	ENSP00000501773.1:p.Ile149Asn
ENST00000477812.2:n.1122T>A
ENST00000493945.6:c.575T>A	ENSP00000494269.1:p.Ile192Asn
ENST00000642480.2:c.575T>A	ENSP00000495995.2:p.Ile192Asn
ENST00000645576.1:c.527T>A	ENSP00000496101.1:p.Ile176Asn
ENST00000646664.1:c.575T>A MANE Select	ENSP00000494750.1:p.Ile192Asn
ENST00000647275.1:c.209T>A	ENSP00000494185.1:p.Ile70Asn
ENST00000674681.1:c.575T>A	ENSP00000502821.1:p.Ile192Asn
ENST00000675515.1:c.575T>A	ENSP00000501862.1:p.Ile192Asn
ENST00000676189.1:c.*118T>A	ENSP00000502538.1:n.*118T>A
ENST00000676319.1:c.88-725T>A	ENSP00000502193.1:n.88-725T>A
ENST00000676397.1:c.575T>A	ENSP00000502286.1:p.Ile192Asn
ENST00000331789.9:c.575T>A	ENSP00000349960.4:p.Ile192Asn
ENST00000425660.5:c.*238T>A	ENSP00000409264.1:n.*238T>A
ENST00000462494.5:n.1100T>A
ENST00000473257.1:n.293T>A
ENST00000477812.1:n.782T>A
ENST00000484841.5:n.730T>A
ENST00000493945.5:n.581T>A
NM_001101.3:c.575T>A , LRG_132t1:c.575T>A	NP_001092.1:p.Ile192Asn
XM_006715764.1:c.209T>A	XP_006715827.1:p.Ile70Asn
NM_001101.4:c.575T>A	NP_001092.1:p.Ile192Asn
NM_001101.5:c.575T>A MANE Select	NP_001092.1:p.Ile192Asn