Canonical Allele Identifier: CA16042581

Gene: ACTB

Linked Data

• ClinVar Variation Id: 372917
• ClinVar RCV Id: RCV000414211
• dbSNP Id: rs1057518073
• MyVariant Identifiers: chr7:g.5568235G>A (hg19) ; chr7:g.5528604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528604G>A , CM000669.2:g.5528604G>A	GRCh38
NC_000007.13:g.5568235G>A , CM000669.1:g.5568235G>A	GRCh37
NC_000007.12:g.5534761G>A	NCBI36
NG_007992.1:g.6998C>T , LRG_132:g.6998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432588.6:c.479C>T	ENSP00000407473.2:p.Thr160Ile
ENST00000473257.3:c.350C>T	ENSP00000501773.1:p.Thr117Ile
ENST00000477812.2:n.1026C>T
ENST00000493945.6:c.479C>T	ENSP00000494269.1:p.Thr160Ile
ENST00000642480.2:c.479C>T	ENSP00000495995.2:p.Thr160Ile
ENST00000645576.1:c.431C>T	ENSP00000496101.1:p.Thr144Ile
ENST00000646664.1:c.479C>T MANE Select	ENSP00000494750.1:p.Thr160Ile
ENST00000647275.1:c.113C>T	ENSP00000494185.1:p.Thr38Ile
ENST00000674681.1:c.479C>T	ENSP00000502821.1:p.Thr160Ile
ENST00000675515.1:c.479C>T	ENSP00000501862.1:p.Thr160Ile
ENST00000676189.1:c.*22C>T	ENSP00000502538.1:n.*22C>T
ENST00000676319.1:c.88-821C>T	ENSP00000502193.1:n.88-821C>T
ENST00000676397.1:c.479C>T	ENSP00000502286.1:p.Thr160Ile
ENST00000331789.9:c.479C>T	ENSP00000349960.4:p.Thr160Ile
ENST00000425660.5:c.*142C>T	ENSP00000409264.1:n.*142C>T
ENST00000432588.5:c.479C>T	ENSP00000407473.1:p.Thr160Ile
ENST00000462494.5:n.1004C>T
ENST00000473257.1:n.197C>T
ENST00000477812.1:n.686C>T
ENST00000484841.5:n.634C>T
ENST00000493945.5:n.485C>T
NM_001101.3:c.479C>T , LRG_132t1:c.479C>T	NP_001092.1:p.Thr160Ile
XM_006715764.1:c.113C>T	XP_006715827.1:p.Thr38Ile
NM_001101.4:c.479C>T	NP_001092.1:p.Thr160Ile
NM_001101.5:c.479C>T MANE Select	NP_001092.1:p.Thr160Ile