Canonical Allele Identifier: CA345145294
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1479985
ClinVar RCV Id: RCV001991129
dbSNP Id: rs2102735175
MyVariant Identifiers: chr1:g.229567478A>T (hg19) chr1:g.229431731A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431731A>T , CM000663.2:g.229431731A>T GRCh38
NC_000001.10:g.229567478A>T , CM000663.1:g.229567478A>T GRCh37
NC_000001.9:g.227634101A>T NCBI36
NG_006672.1:g.7366T>A , LRG_429:g.7366T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.980T>A ENSP00000355644.4:p.Met327Lys
ENST00000684723.1:c.845T>A ENSP00000508084.1:p.Met282Lys
ENST00000366683.3:c.611T>A ENSP00000355644.3:p.Met204Lys
ENST00000366684.7:c.980T>A MANE Select ENSP00000355645.3:p.Met327Lys
NM_001100.3:c.980T>A , LRG_429t1:c.980T>A NP_001091.1:p.Met327Lys
NM_001100.4:c.980T>A MANE Select NP_001091.1:p.Met327Lys
Search 100 bp 5'
Search 100 bp 3'