Canonical Allele Identifier: CA345147001

Gene: ACTA1

Linked Data

• COSMIC: COSM5781374
• MyVariant Identifiers: chr1:g.229567852C>A (hg19) ; chr1:g.229432105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432105C>A , CM000663.2:g.229432105C>A	GRCh38
NC_000001.10:g.229567852C>A , CM000663.1:g.229567852C>A	GRCh37
NC_000001.9:g.227634475C>A	NCBI36
NG_006672.1:g.6992G>T , LRG_429:g.6992G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.697G>T	ENSP00000355644.4:p.Ala233Ser
ENST00000684723.1:c.562G>T	ENSP00000508084.1:p.Ala188Ser
ENST00000366683.3:c.480-243G>T	ENSP00000355644.3:n.480-243G>T
ENST00000366684.7:c.697G>T MANE Select	ENSP00000355645.3:p.Ala233Ser
NM_001100.3:c.697G>T , LRG_429t1:c.697G>T	NP_001091.1:p.Ala233Ser
NM_001100.4:c.697G>T MANE Select	NP_001091.1:p.Ala233Ser