Canonical Allele Identifier: CA423755039
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs778261678
MyVariant Identifiers: chr1:g.229568111C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432364C>A , CM000663.2:g.229432364C>A GRCh38
NC_000001.10:g.229568111C>A , CM000663.1:g.229568111C>A GRCh37
NC_000001.9:g.227634734C>A NCBI36
NG_006672.1:g.6733G>T , LRG_429:g.6733G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.522G>T ENSP00000355644.4:p.Pro174=
ENST00000684723.1:c.387G>T ENSP00000508084.1:p.Pro129=
ENST00000366683.3:c.479+43G>T ENSP00000355644.3:n.479+43G>T
ENST00000366684.7:c.522G>T MANE Select ENSP00000355645.3:p.Pro174=
NM_001100.3:c.522G>T , LRG_429t1:c.522G>T NP_001091.1:p.Pro174=
NM_001100.4:c.522G>T MANE Select NP_001091.1:p.Pro174=