Canonical Allele Identifier: CA4146986

Gene: ACTB

Linked Data

• ClinVar Variation Id: 1158741
• ClinVar RCV Id: RCV001502242
• dbSNP Id: rs759523049
• ExAC: 7:5568135 G / T
• gnomAD v2: 7-5568135-G-T
• gnomAD v4: 7-5528504-G-T
• MyVariant Identifiers: chr7:g.5568135G>T (hg19) ; chr7:g.5528504G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528504G>T , CM000669.2:g.5528504G>T	GRCh38
NC_000007.13:g.5568135G>T , CM000669.1:g.5568135G>T	GRCh37
NC_000007.12:g.5534661G>T	NCBI36
NG_007992.1:g.7098C>A , LRG_132:g.7098C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.579C>A	ENSP00000407473.2:p.Leu193=
ENST00000473257.3:c.450C>A	ENSP00000501773.1:p.Leu150=
ENST00000477812.2:n.1126C>A
ENST00000493945.6:c.579C>A	ENSP00000494269.1:p.Leu193=
ENST00000642480.2:c.579C>A	ENSP00000495995.2:p.Leu193=
ENST00000645576.1:c.531C>A	ENSP00000496101.1:p.Leu177=
ENST00000646664.1:c.579C>A MANE Select	ENSP00000494750.1:p.Leu193=
ENST00000647275.1:c.213C>A	ENSP00000494185.1:p.Leu71=
ENST00000674681.1:c.579C>A	ENSP00000502821.1:p.Leu193=
ENST00000675515.1:c.579C>A	ENSP00000501862.1:p.Leu193=
ENST00000676189.1:c.*122C>A	ENSP00000502538.1:n.*122C>A
ENST00000676319.1:c.88-721C>A	ENSP00000502193.1:n.88-721C>A
ENST00000676397.1:c.579C>A	ENSP00000502286.1:p.Leu193=
ENST00000331789.9:c.579C>A	ENSP00000349960.4:p.Leu193=
ENST00000425660.5:c.*242C>A	ENSP00000409264.1:n.*242C>A
ENST00000462494.5:n.1104C>A
ENST00000473257.1:n.297C>A
ENST00000477812.1:n.786C>A
ENST00000484841.5:n.734C>A
ENST00000493945.5:n.585C>A
NM_001101.3:c.579C>A , LRG_132t1:c.579C>A	NP_001092.1:p.Leu193=
XM_006715764.1:c.213C>A	XP_006715827.1:p.Leu71=
NM_001101.4:c.579C>A	NP_001092.1:p.Leu193=
NM_001101.5:c.579C>A MANE Select	NP_001092.1:p.Leu193=