Canonical Allele Identifier: CA366706326

Gene: ACTB

Linked Data

• ClinVar Variation Id: 1685500
• ClinVar RCV Id: RCV002249227
• dbSNP Id: rs2128241411
• COSMIC: COSM5891967 ; COSM5891968
• MyVariant Identifiers: chr7:g.5569014C>T (hg19) ; chr7:g.5529383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5529383C>T , CM000669.2:g.5529383C>T	GRCh38
NC_000007.13:g.5569014C>T , CM000669.1:g.5569014C>T	GRCh37
NC_000007.12:g.5535540C>T	NCBI36
NG_007992.1:g.6219G>A , LRG_132:g.6219G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417101.2:c.141G>A	ENSP00000399487.2:p.Met47Ile
ENST00000432588.6:c.141G>A	ENSP00000407473.2:p.Met47Ile
ENST00000473257.3:c.12G>A	ENSP00000501773.1:p.Met4Ile
ENST00000477812.2:n.348G>A
ENST00000484841.6:n.295G>A
ENST00000493945.6:c.141G>A	ENSP00000494269.1:p.Met47Ile
ENST00000642480.2:c.141G>A	ENSP00000495995.2:p.Met47Ile
ENST00000645025.1:n.224G>A
ENST00000645576.1:c.141G>A	ENSP00000496101.1:p.Met47Ile
ENST00000646664.1:c.141G>A MANE Select	ENSP00000494750.1:p.Met47Ile
ENST00000647275.1:c.-3-664G>A	ENSP00000494185.1:n.-3-664G>A
ENST00000674681.1:c.141G>A	ENSP00000502821.1:p.Met47Ile
ENST00000675515.1:c.141G>A	ENSP00000501862.1:p.Met47Ile
ENST00000676189.1:c.141G>A	ENSP00000502538.1:p.Met47Ile
ENST00000676319.1:c.87+188G>A	ENSP00000502193.1:n.87+188G>A
ENST00000676397.1:c.141G>A	ENSP00000502286.1:p.Met47Ile
ENST00000331789.9:c.141G>A	ENSP00000349960.4:p.Met47Ile
ENST00000414620.1:c.141G>A	ENSP00000401032.1:p.Met47Ile
ENST00000417101.1:c.150G>A	ENSP00000399487.1:p.Met50Ile
ENST00000425660.5:c.141G>A	ENSP00000409264.1:p.Met47Ile
ENST00000432588.5:c.141G>A	ENSP00000407473.1:p.Met47Ile
ENST00000443528.5:c.141G>A	ENSP00000393951.1:p.Met47Ile
ENST00000462494.5:n.225G>A
ENST00000473257.1:n.82-664G>A
ENST00000477812.1:n.348G>A
ENST00000480301.1:n.341G>A
ENST00000484841.5:n.296G>A
ENST00000493945.5:n.147G>A
NM_001101.3:c.141G>A , LRG_132t1:c.141G>A	NP_001092.1:p.Met47Ile
NM_001101.4:c.141G>A	NP_001092.1:p.Met47Ile
NM_001101.5:c.141G>A MANE Select	NP_001092.1:p.Met47Ile