Canonical Allele Identifier: CA38815125

Gene: ACTA1

Linked Data

• dbSNP Id: rs533868659
• COSMIC: COSM3804266
• MyVariant Identifiers: chr1:g.229567561G>A (hg19) ; chr1:g.229431814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431814G>A , CM000663.2:g.229431814G>A	GRCh38
NC_000001.10:g.229567561G>A , CM000663.1:g.229567561G>A	GRCh37
NC_000001.9:g.227634184G>A	NCBI36
NG_006672.1:g.7283C>T , LRG_429:g.7283C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.897C>T	ENSP00000355644.4:p.Asn299=
ENST00000684723.1:c.762C>T	ENSP00000508084.1:p.Asn254=
ENST00000366683.3:c.528C>T	ENSP00000355644.3:p.Asn176=
ENST00000366684.7:c.897C>T MANE Select	ENSP00000355645.3:p.Asn299=
NM_001100.3:c.897C>T , LRG_429t1:c.897C>T	NP_001091.1:p.Asn299=
NM_001100.4:c.897C>T MANE Select	NP_001091.1:p.Asn299=