Canonical Allele Identifier: CA732581021
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1445283336
gnomAD v3: 1-229432478-C-CT
gnomAD v4: 1-229432478-C-CT
MyVariant Identifiers: chr1:g.229568225_229568226insT (hg19) chr1:g.229432478_229432479insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432479dup , CM000663.2:g.229432479dup GRCh38
NC_000001.10:g.229568226dup , CM000663.1:g.229568226dup GRCh37
NC_000001.9:g.227634849dup NCBI36
NG_006672.1:g.6618dup , LRG_429:g.6618dup

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.455-48dup ENSP00000355644.4:n.455-48dup
ENST00000684723.1:c.320-48dup ENSP00000508084.1:n.320-48dup
ENST00000366683.3:c.455-48dup ENSP00000355644.3:n.455-48dup
ENST00000366684.7:c.455-48dup MANE Select ENSP00000355645.3:n.455-48dup
NM_001100.3:c.455-48dup , LRG_429t1:c.455-48dup NP_001091.1:n.455-48dup
NM_001100.4:c.455-48dup MANE Select NP_001091.1:n.455-48dup
Search 100 bp 5'
Search 100 bp 3'