Canonical Allele Identifier: CA423755088
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229568346G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432599G>T , CM000663.2:g.229432599G>T GRCh38
NC_000001.10:g.229568346G>T , CM000663.1:g.229568346G>T GRCh37
NC_000001.9:g.227634969G>T NCBI36
NG_006672.1:g.6498C>A , LRG_429:g.6498C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.411C>A ENSP00000355644.4:p.Ala137=
ENST00000684723.1:c.276C>A ENSP00000508084.1:p.Ala92=
ENST00000366683.3:c.411C>A ENSP00000355644.3:p.Ala137=
ENST00000366684.7:c.411C>A MANE Select ENSP00000355645.3:p.Ala137=
NM_001100.3:c.411C>A , LRG_429t1:c.411C>A NP_001091.1:p.Ala137=
NM_001100.4:c.411C>A MANE Select NP_001091.1:p.Ala137=