Canonical Allele Identifier: CA423755448
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1571893881
MyVariant Identifiers: chr1:g.229568541A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432794A>G , CM000663.2:g.229432794A>G GRCh38
NC_000001.10:g.229568541A>G , CM000663.1:g.229568541A>G GRCh37
NC_000001.9:g.227635164A>G NCBI36
NG_006672.1:g.6303T>C , LRG_429:g.6303T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.216T>C ENSP00000355644.4:p.Pro72=
ENST00000684723.1:c.81T>C ENSP00000508084.1:p.Pro27=
ENST00000366683.3:c.216T>C ENSP00000355644.3:p.Pro72=
ENST00000366684.7:c.216T>C MANE Select ENSP00000355645.3:p.Pro72=
NM_001100.3:c.216T>C , LRG_429t1:c.216T>C NP_001091.1:p.Pro72=
NM_001100.4:c.216T>C MANE Select NP_001091.1:p.Pro72=