Canonical Allele Identifier: CA345147195
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1163052117
gnomAD v2: 1-229567888-C-G
gnomAD v3: 1-229432141-C-G
gnomAD v4: 1-229432141-C-G
MyVariant Identifiers: chr1:g.229567888C>G (hg19) chr1:g.229432141C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432141C>G , CM000663.2:g.229432141C>G GRCh38
NC_000001.10:g.229567888C>G , CM000663.1:g.229567888C>G GRCh37
NC_000001.9:g.227634511C>G NCBI36
NG_006672.1:g.6956G>C , LRG_429:g.6956G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.661G>C ENSP00000355644.4:p.Val221Leu
ENST00000684723.1:c.526G>C ENSP00000508084.1:p.Val176Leu
ENST00000366683.3:c.479+266G>C ENSP00000355644.3:n.479+266G>C
ENST00000366684.7:c.661G>C MANE Select ENSP00000355645.3:p.Val221Leu
NM_001100.3:c.661G>C , LRG_429t1:c.661G>C NP_001091.1:p.Val221Leu
NM_001100.4:c.661G>C MANE Select NP_001091.1:p.Val221Leu
Search 100 bp 5'
Search 100 bp 3'