Canonical Allele Identifier: CA689769341

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1160056454
• MyVariant Identifiers: chr12:g.52313958G>A (hg19) ; chr12:g.51920174G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920174G>A , CM000674.2:g.51920174G>A	GRCh38
NC_000012.11:g.52313958G>A , CM000674.1:g.52313958G>A	GRCh37
NC_000012.10:g.50600225G>A	NCBI36
NG_009549.1:g.17757G>A , LRG_543:g.17757G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-585G>A	ENSP00000446724.2:n.1108-585G>A
ENST00000551576.6:c.1378-585G>A	ENSP00000455848.2:n.1378-585G>A
ENST00000388922.9:c.1378-585G>A MANE Select	ENSP00000373574.4:n.1378-585G>A
ENST00000388922.8:c.1378-585G>A	ENSP00000373574.4:n.1378-585G>A
ENST00000419526.6:c.856-585G>A	ENSP00000392492.2:n.856-585G>A
ENST00000550683.5:c.1420-585G>A	ENSP00000447884.1:n.1420-585G>A
NM_000020.2:c.1378-585G>A , LRG_543t1:c.1378-585G>A	NP_000011.2:n.1378-585G>A
NM_001077401.1:c.1378-585G>A	NP_001070869.1:n.1378-585G>A
XM_005269235.2:c.1378-585G>A	XP_005269292.1:n.1378-585G>A
XM_011539008.1:c.1108-585G>A	XP_011537310.1:n.1108-585G>A
XM_024449279.1:c.589-585G>A	XP_024305047.1:n.589-585G>A
NM_000020.3:c.1378-585G>A MANE Select	NP_000011.2:n.1378-585G>A
NM_001077401.2:c.1378-585G>A	NP_001070869.1:n.1378-585G>A