Canonical Allele Identifier: CA658683477

Gene: ACTB

Linked Data

• ClinVar Variation Id: 495294
• ClinVar RCV Id: RCV000585890 ; RCV000624638
• dbSNP Id: rs1554329078
• MyVariant Identifiers: chr7:g.5567410dup (hg19) ; chr7:g.5527779dup (hg38)
• PubMed: PMID:10411937 ; PMID:16685646 ; PMID:22366783 ; PMID:22495914 ; PMID:23649928 ; PMID:23756437 ; PMID:25052316 ; PMID:25156961 ; PMID:27240540 ; PMID:27868373 ; PMID:29220674

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5527780dup , CM000669.2:g.5527780dup	GRCh38
NC_000007.13:g.5567411dup , CM000669.1:g.5567411dup	GRCh37
NC_000007.12:g.5533937dup	NCBI36
NG_007992.1:g.7823dup , LRG_132:g.7823dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000473257.3:c.968dup	ENSP00000501773.1:p.Ser325LeufsTer13
ENST00000477812.2:n.1644dup
ENST00000493945.6:c.1097dup	ENSP00000494269.1:p.Ser368LeufsTer13
ENST00000642480.2:c.1097dup	ENSP00000495995.2:p.Ser368LeufsTer13
ENST00000646664.1:c.1097dup MANE Select	ENSP00000494750.1:p.Ser368LeufsTer13
ENST00000674681.1:c.1097dup	ENSP00000502821.1:p.Ser368LeufsTer13
ENST00000675515.1:c.1097dup	ENSP00000501862.1:p.Ser368LeufsTer13
ENST00000676189.1:c.*640dup	ENSP00000502538.1:n.*640dup
ENST00000676319.1:c.92dup	ENSP00000502193.1:p.Ser33LeufsTer13
ENST00000676397.1:c.*103dup	ENSP00000502286.1:n.*103dup
ENST00000331789.9:c.1097dup	ENSP00000349960.4:p.Ser368LeufsTer13
ENST00000425660.5:c.*760dup	ENSP00000409264.1:n.*760dup
ENST00000462494.5:n.1622dup
ENST00000464611.1:n.208dup
ENST00000493945.5:n.1198dup
NM_001101.3:c.1097dup , LRG_132t1:c.1097dup	NP_001092.1:p.Ser368LeufsTer13
XM_006715764.1:c.731dup	XP_006715827.1:p.Ser246LeufsTer13
NM_001101.4:c.1097dup	NP_001092.1:p.Ser368LeufsTer13
NM_001101.5:c.1097dup MANE Select	NP_001092.1:p.Ser368LeufsTer13