Canonical Allele Identifier: CA1442887
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs750797766
ExAC: 1:229568356 A / C
gnomAD v2: 1-229568356-A-C
gnomAD v4: 1-229432609-A-C
MyVariant Identifiers: chr1:g.229568356A>C (hg19) chr1:g.229432609A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432609A>C , CM000663.2:g.229432609A>C GRCh38
NC_000001.10:g.229568356A>C , CM000663.1:g.229568356A>C GRCh37
NC_000001.9:g.227634979A>C NCBI36
NG_006672.1:g.6488T>G , LRG_429:g.6488T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.401T>G ENSP00000355644.4:p.Met134Arg
ENST00000684723.1:c.266T>G ENSP00000508084.1:p.Met89Arg
ENST00000366683.3:c.401T>G ENSP00000355644.3:p.Met134Arg
ENST00000366684.7:c.401T>G MANE Select ENSP00000355645.3:p.Met134Arg
NM_001100.3:c.401T>G , LRG_429t1:c.401T>G NP_001091.1:p.Met134Arg
NM_001100.4:c.401T>G MANE Select NP_001091.1:p.Met134Arg
Search 100 bp 5'
Search 100 bp 3'