Canonical Allele Identifier: CA1442843
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1159785
ClinVar RCV Id: RCV001503617 RCV003908793
dbSNP Id: rs369670582
ExAC: 1:229568087 C / T
gnomAD v2: 1-229568087-C-T
gnomAD v3: 1-229432340-C-T
gnomAD v4: 1-229432340-C-T
MyVariant Identifiers: chr1:g.229568087C>T (hg19) chr1:g.229432340C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432340C>T , CM000663.2:g.229432340C>T GRCh38
NC_000001.10:g.229568087C>T , CM000663.1:g.229568087C>T GRCh37
NC_000001.9:g.227634710C>T NCBI36
NG_006672.1:g.6757G>A , LRG_429:g.6757G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.546G>A ENSP00000355644.4:p.Leu182=
ENST00000684723.1:c.411G>A ENSP00000508084.1:p.Leu137=
ENST00000366683.3:c.479+67G>A ENSP00000355644.3:n.479+67G>A
ENST00000366684.7:c.546G>A MANE Select ENSP00000355645.3:p.Leu182=
NM_001100.3:c.546G>A , LRG_429t1:c.546G>A NP_001091.1:p.Leu182=
NM_001100.4:c.546G>A MANE Select NP_001091.1:p.Leu182=
Search 100 bp 5'
Search 100 bp 3'