Canonical Allele Identifier: CA366703452

Gene: ACTB

Linked Data

• MyVariant Identifiers: chr7:g.5568239C>A (hg19) ; chr7:g.5528608C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5528608C>A , CM000669.2:g.5528608C>A	GRCh38
NC_000007.13:g.5568239C>A , CM000669.1:g.5568239C>A	GRCh37
NC_000007.12:g.5534765C>A	NCBI36
NG_007992.1:g.6994G>T , LRG_132:g.6994G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432588.6:c.475G>T	ENSP00000407473.2:p.Val159Phe
ENST00000473257.3:c.346G>T	ENSP00000501773.1:p.Val116Phe
ENST00000477812.2:n.1022G>T
ENST00000493945.6:c.475G>T	ENSP00000494269.1:p.Val159Phe
ENST00000642480.2:c.475G>T	ENSP00000495995.2:p.Val159Phe
ENST00000645576.1:c.427G>T	ENSP00000496101.1:p.Val143Phe
ENST00000646664.1:c.475G>T MANE Select	ENSP00000494750.1:p.Val159Phe
ENST00000647275.1:c.109G>T	ENSP00000494185.1:p.Val37Phe
ENST00000674681.1:c.475G>T	ENSP00000502821.1:p.Val159Phe
ENST00000675515.1:c.475G>T	ENSP00000501862.1:p.Val159Phe
ENST00000676189.1:c.*18G>T	ENSP00000502538.1:n.*18G>T
ENST00000676319.1:c.88-825G>T	ENSP00000502193.1:n.88-825G>T
ENST00000676397.1:c.475G>T	ENSP00000502286.1:p.Val159Phe
ENST00000331789.9:c.475G>T	ENSP00000349960.4:p.Val159Phe
ENST00000425660.5:c.*138G>T	ENSP00000409264.1:n.*138G>T
ENST00000432588.5:c.475G>T	ENSP00000407473.1:p.Val159Phe
ENST00000462494.5:n.1000G>T
ENST00000473257.1:n.193G>T
ENST00000477812.1:n.682G>T
ENST00000484841.5:n.630G>T
ENST00000493945.5:n.481G>T
NM_001101.3:c.475G>T , LRG_132t1:c.475G>T	NP_001092.1:p.Val159Phe
XM_006715764.1:c.109G>T	XP_006715827.1:p.Val37Phe
NM_001101.4:c.475G>T	NP_001092.1:p.Val159Phe
NM_001101.5:c.475G>T MANE Select	NP_001092.1:p.Val159Phe