Canonical Allele Identifier: CA423755170

Gene: ACTA1

Linked Data

• dbSNP Id: rs1571893086
• COSMIC: COSM1339915
• MyVariant Identifiers: chr1:g.229567868G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432121G>A , CM000663.2:g.229432121G>A	GRCh38
NC_000001.10:g.229567868G>A , CM000663.1:g.229567868G>A	GRCh37
NC_000001.9:g.227634491G>A	NCBI36
NG_006672.1:g.6976C>T , LRG_429:g.6976C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.681C>T	ENSP00000355644.4:p.Asn227=
ENST00000684723.1:c.546C>T	ENSP00000508084.1:p.Asn182=
ENST00000366683.3:c.480-259C>T	ENSP00000355644.3:n.480-259C>T
ENST00000366684.7:c.681C>T MANE Select	ENSP00000355645.3:p.Asn227=
NM_001100.3:c.681C>T , LRG_429t1:c.681C>T	NP_001091.1:p.Asn227=
NM_001100.4:c.681C>T MANE Select	NP_001091.1:p.Asn227=