Canonical Allele Identifier: CA345146383
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2734104
ClinVar RCV Id: RCV003518738
gnomAD v4: 1-229431994-C-T
COSMIC: COSM1339913
MyVariant Identifiers: chr1:g.229567741C>T (hg19) chr1:g.229431994C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431994C>T , CM000663.2:g.229431994C>T GRCh38
NC_000001.10:g.229567741C>T , CM000663.1:g.229567741C>T GRCh37
NC_000001.9:g.227634364C>T NCBI36
NG_006672.1:g.7103G>A , LRG_429:g.7103G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.808G>A ENSP00000355644.4:p.Gly270Ser
ENST00000684723.1:c.673G>A ENSP00000508084.1:p.Gly225Ser
ENST00000366683.3:c.480-132G>A ENSP00000355644.3:n.480-132G>A
ENST00000366684.7:c.808G>A MANE Select ENSP00000355645.3:p.Gly270Ser
NM_001100.3:c.808G>A , LRG_429t1:c.808G>A NP_001091.1:p.Gly270Ser
NM_001100.4:c.808G>A MANE Select NP_001091.1:p.Gly270Ser
Search 100 bp 5'
Search 100 bp 3'