Canonical Allele Identifier: CA423755055
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs2102736174
MyVariant Identifiers: chr1:g.229568325G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432578G>A , CM000663.2:g.229432578G>A GRCh38
NC_000001.10:g.229568325G>A , CM000663.1:g.229568325G>A GRCh37
NC_000001.9:g.227634948G>A NCBI36
NG_006672.1:g.6519C>T , LRG_429:g.6519C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.432C>T ENSP00000355644.4:p.Leu144=
ENST00000684723.1:c.297C>T ENSP00000508084.1:p.Leu99=
ENST00000366683.3:c.432C>T ENSP00000355644.3:p.Leu144=
ENST00000366684.7:c.432C>T MANE Select ENSP00000355645.3:p.Leu144=
NM_001100.3:c.432C>T , LRG_429t1:c.432C>T NP_001091.1:p.Leu144=
NM_001100.4:c.432C>T MANE Select NP_001091.1:p.Leu144=
Search 100 bp 5'
Search 100 bp 3'