Canonical Allele Identifier: CA345147322
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567906T>G (hg19) chr1:g.229432159T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432159T>G , CM000663.2:g.229432159T>G GRCh38
NC_000001.10:g.229567906T>G , CM000663.1:g.229567906T>G GRCh37
NC_000001.9:g.227634529T>G NCBI36
NG_006672.1:g.6938A>C , LRG_429:g.6938A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.643A>C ENSP00000355644.4:p.Lys215Gln
ENST00000684723.1:c.508A>C ENSP00000508084.1:p.Lys170Gln
ENST00000366683.3:c.479+248A>C ENSP00000355644.3:n.479+248A>C
ENST00000366684.7:c.643A>C MANE Select ENSP00000355645.3:p.Lys215Gln
NM_001100.3:c.643A>C , LRG_429t1:c.643A>C NP_001091.1:p.Lys215Gln
NM_001100.4:c.643A>C MANE Select NP_001091.1:p.Lys215Gln
Search 100 bp 5'
Search 100 bp 3'