Canonical Allele Identifier: CA345144023

Gene: ACTA1

Linked Data

• MyVariant Identifiers: chr1:g.229567247T>A (hg19) ; chr1:g.229431500T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431500T>A , CM000663.2:g.229431500T>A	GRCh38
NC_000001.10:g.229567247T>A , CM000663.1:g.229567247T>A	GRCh37
NC_000001.9:g.227633870T>A	NCBI36
NG_006672.1:g.7597A>T , LRG_429:g.7597A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.1055A>T	ENSP00000355644.4:p.Ter352Leu
ENST00000684723.1:c.998A>T	ENSP00000508084.1:p.Ter333Leu
ENST00000366683.3:c.764A>T	ENSP00000355644.3:p.Ter255Leu
ENST00000366684.7:c.1133A>T MANE Select	ENSP00000355645.3:p.Ter378Leu
NM_001100.3:c.1133A>T , LRG_429t1:c.1133A>T	NP_001091.1:p.Ter378Leu
NM_001100.4:c.1133A>T MANE Select	NP_001091.1:p.Ter378Leu