Canonical Allele Identifier: CA658656988

Gene: ACTA1

Linked Data

• ClinVar Variation Id: 464137
• ClinVar RCV Id: RCV000551010
• dbSNP Id: rs1553255336
• MyVariant Identifiers: chr1:g.229567490_229567495del (hg19) ; chr1:g.229431743_229431748del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431745_229431750del , CM000663.2:g.229431745_229431750del	GRCh38
NC_000001.10:g.229567492_229567497del , CM000663.1:g.229567492_229567497del	GRCh37
NC_000001.9:g.227634115_227634120del	NCBI36
NG_006672.1:g.7349_7354del , LRG_429:g.7349_7354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.963_968del	ENSP00000355644.4:p.Leu322_Ala323del
ENST00000684723.1:c.828_833del	ENSP00000508084.1:p.Leu277_Ala278del
ENST00000366683.3:c.594_599del	ENSP00000355644.3:p.Leu199_Ala200del
ENST00000366684.7:c.963_968del MANE Select	ENSP00000355645.3:p.Leu322_Ala323del
NM_001100.3:c.963_968del , LRG_429t1:c.963_968del	NP_001091.1:p.Leu322_Ala323del
NM_001100.4:c.963_968del MANE Select	NP_001091.1:p.Leu322_Ala323del