Canonical Allele Identifier: CA1442715
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs776764140
ExAC: 1:229567360 C / T
gnomAD v2: 1-229567360-C-T
gnomAD v3: 1-229431613-C-T
gnomAD v4: 1-229431613-C-T
MyVariant Identifiers: chr1:g.229567360C>T (hg19) chr1:g.229431613C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431613C>T , CM000663.2:g.229431613C>T GRCh38
NC_000001.10:g.229567360C>T , CM000663.1:g.229567360C>T GRCh37
NC_000001.9:g.227633983C>T NCBI36
NG_006672.1:g.7484G>A , LRG_429:g.7484G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-49G>A ENSP00000355644.4:n.991-49G>A
ENST00000684723.1:c.885G>A ENSP00000508084.1:p.Ser295=
ENST00000366683.3:c.651G>A ENSP00000355644.3:p.Ser217=
ENST00000366684.7:c.1020G>A MANE Select ENSP00000355645.3:p.Ser340=
NM_001100.3:c.1020G>A , LRG_429t1:c.1020G>A NP_001091.1:p.Ser340=
NM_001100.4:c.1020G>A MANE Select NP_001091.1:p.Ser340=
Search 100 bp 5'
Search 100 bp 3'