Canonical Allele Identifier: CA384899778

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 426013
• ClinVar RCV Id: RCV000488655
• dbSNP Id: rs886043123
• MyVariant Identifiers: chr12:g.52307825T>A (hg19) ; chr12:g.51914041T>A (hg38)
• PubMed: PMID:23919827 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914041T>A , CM000674.2:g.51914041T>A	GRCh38
NC_000012.11:g.52307825T>A , CM000674.1:g.52307825T>A	GRCh37
NC_000012.10:g.50594092T>A	NCBI36
NG_009549.1:g.11624T>A , LRG_543:g.11624T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-398T>A	ENSP00000446724.2:n.356-398T>A
ENST00000551576.6:c.593T>A	ENSP00000455848.2:p.Val198Glu
ENST00000552678.2:c.593T>A	ENSP00000457394.2:p.Val198Glu
ENST00000388922.9:c.593T>A MANE Select	ENSP00000373574.4:p.Val198Glu
ENST00000388922.8:c.593T>A	ENSP00000373574.4:p.Val198Glu
ENST00000419526.6:c.104-398T>A	ENSP00000392492.2:n.104-398T>A
ENST00000547400.5:c.356-398T>A	ENSP00000446724.1:n.356-398T>A
ENST00000550683.5:c.635T>A	ENSP00000447884.1:p.Val212Glu
NM_000020.2:c.593T>A , LRG_543t1:c.593T>A	NP_000011.2:p.Val198Glu
NM_001077401.1:c.593T>A	NP_001070869.1:p.Val198Glu
XM_005269235.2:c.593T>A	XP_005269292.1:p.Val198Glu
XM_011539008.1:c.356-398T>A	XP_011537310.1:n.356-398T>A
XM_024449279.1:c.-165+271T>A	XP_024305047.1:n.-165+271T>A
NM_000020.3:c.593T>A MANE Select	NP_000011.2:p.Val198Glu
NM_001077401.2:c.593T>A	NP_001070869.1:p.Val198Glu