Canonical Allele Identifier: CA1226125885
Community Standard Title: NM_001100.4(ACTA1):c.430C= (p.Leu144=)
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432580G= , CM000663.2:g.229432580G= GRCh38
NC_000001.10:g.229568327G= , CM000663.1:g.229568327G= GRCh37
NC_000001.9:g.227634950G= NCBI36
NG_006672.1:g.6517C= , LRG_429:g.6517C=

Transcript Alleles

HGVS Amino-acid Change
NM_001100.4:c.430C= MANE Select NP_001091.1:p.Leu144=
ENST00000366684.7:c.430C= MANE Select ENSP00000355645.3:p.Leu144=
NM_001100.3:c.430C= , LRG_429t1:c.430C= NP_001091.1:p.Leu144=
ENST00000366683.3:c.430C= ENSP00000355644.3:p.Leu144=
ENST00000366683.4:c.430C= ENSP00000355644.4:p.Leu144=
ENST00000684723.1:c.295C= ENSP00000508084.1:p.Leu99=