Canonical Allele Identifier: CA1139659980

Gene: ACTB

Linked Data

• ClinVar Variation Id: 944265
• ClinVar RCV Id: RCV001214625
• dbSNP Id: rs1784812557

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528467dup , CM000669.2:g.5528467dup	GRCh38
NC_000007.13:g.5568098dup , CM000669.1:g.5568098dup	GRCh37
NC_000007.12:g.5534624dup	NCBI36
NG_007992.1:g.7135dup , LRG_132:g.7135dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.616dup	ENSP00000407473.2:p.Arg206ProfsTer6
ENST00000473257.3:c.487dup	ENSP00000501773.1:p.Arg163ProfsTer6
ENST00000477812.2:n.1163dup
ENST00000493945.6:c.616dup	ENSP00000494269.1:p.Arg206ProfsTer6
ENST00000642480.2:c.616dup	ENSP00000495995.2:p.Arg206ProfsTer6
ENST00000645576.1:c.568dup	ENSP00000496101.1:p.Arg190ProfsTer6
ENST00000646664.1:c.616dup MANE Select	ENSP00000494750.1:p.Arg206ProfsTer6
ENST00000647275.1:c.250dup	ENSP00000494185.1:p.Arg84ProfsTer6
ENST00000674681.1:c.616dup	ENSP00000502821.1:p.Arg206ProfsTer6
ENST00000675515.1:c.616dup	ENSP00000501862.1:p.Arg206ProfsTer6
ENST00000676189.1:c.*159dup	ENSP00000502538.1:n.*159dup
ENST00000676319.1:c.88-684dup	ENSP00000502193.1:n.88-684dup
ENST00000676397.1:c.616dup	ENSP00000502286.1:p.Arg206ProfsTer6
ENST00000331789.9:c.616dup	ENSP00000349960.4:p.Arg206ProfsTer6
ENST00000425660.5:c.*279dup	ENSP00000409264.1:n.*279dup
ENST00000462494.5:n.1141dup
ENST00000473257.1:n.334dup
ENST00000484841.5:n.771dup
ENST00000493945.5:n.622dup
NM_001101.3:c.616dup , LRG_132t1:c.616dup	NP_001092.1:p.Arg206ProfsTer6
XM_006715764.1:c.250dup	XP_006715827.1:p.Arg84ProfsTer6
NM_001101.4:c.616dup	NP_001092.1:p.Arg206ProfsTer6
NM_001101.5:c.616dup MANE Select	NP_001092.1:p.Arg206ProfsTer6