Canonical Allele Identifier: CA345148413
Gene: ACTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-229432356-A-G
MyVariant Identifiers: chr1:g.229568103A>G (hg19) chr1:g.229432356A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432356A>G , CM000663.2:g.229432356A>G GRCh38
NC_000001.10:g.229568103A>G , CM000663.1:g.229568103A>G GRCh37
NC_000001.9:g.227634726A>G NCBI36
NG_006672.1:g.6741T>C , LRG_429:g.6741T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.530T>C ENSP00000355644.4:p.Ile177Thr
ENST00000684723.1:c.395T>C ENSP00000508084.1:p.Ile132Thr
ENST00000366683.3:c.479+51T>C ENSP00000355644.3:n.479+51T>C
ENST00000366684.7:c.530T>C MANE Select ENSP00000355645.3:p.Ile177Thr
NM_001100.3:c.530T>C , LRG_429t1:c.530T>C NP_001091.1:p.Ile177Thr
NM_001100.4:c.530T>C MANE Select NP_001091.1:p.Ile177Thr
Search 100 bp 5'
Search 100 bp 3'