Canonical Allele Identifier: CA345146965
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1456499
ClinVar RCV Id: RCV001946892
dbSNP Id: rs2102735630
COSMIC: COSM5679954
MyVariant Identifiers: chr1:g.229567845G>T (hg19) chr1:g.229432098G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432098G>T , CM000663.2:g.229432098G>T GRCh38
NC_000001.10:g.229567845G>T , CM000663.1:g.229567845G>T GRCh37
NC_000001.9:g.227634468G>T NCBI36
NG_006672.1:g.6999C>A , LRG_429:g.6999C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.704C>A ENSP00000355644.4:p.Ser235Tyr
ENST00000684723.1:c.569C>A ENSP00000508084.1:p.Ser190Tyr
ENST00000366683.3:c.480-236C>A ENSP00000355644.3:n.480-236C>A
ENST00000366684.7:c.704C>A MANE Select ENSP00000355645.3:p.Ser235Tyr
NM_001100.3:c.704C>A , LRG_429t1:c.704C>A NP_001091.1:p.Ser235Tyr
NM_001100.4:c.704C>A MANE Select NP_001091.1:p.Ser235Tyr
Search 100 bp 5'
Search 100 bp 3'