Canonical Allele Identifier: CA2575161631

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920716T>G , CM000674.2:g.51920716T>G	GRCh38
NC_000012.11:g.52314500T>G , CM000674.1:g.52314500T>G	GRCh37
NC_000012.10:g.50600767T>G	NCBI36
NG_009549.1:g.18299T>G , LRG_543:g.18299T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-43T>G	ENSP00000446724.2:n.1108-43T>G
ENST00000551576.6:c.1378-43T>G	ENSP00000455848.2:n.1378-43T>G
ENST00000388922.9:c.1378-43T>G MANE Select	ENSP00000373574.4:n.1378-43T>G
ENST00000388922.8:c.1378-43T>G	ENSP00000373574.4:n.1378-43T>G
ENST00000419526.6:c.856-43T>G	ENSP00000392492.2:n.856-43T>G
ENST00000550683.5:c.1420-43T>G	ENSP00000447884.1:n.1420-43T>G
NM_000020.2:c.1378-43T>G , LRG_543t1:c.1378-43T>G	NP_000011.2:n.1378-43T>G
NM_001077401.1:c.1378-43T>G	NP_001070869.1:n.1378-43T>G
XM_005269235.2:c.1378-43T>G	XP_005269292.1:n.1378-43T>G
XM_011539008.1:c.1108-43T>G	XP_011537310.1:n.1108-43T>G
XM_024449279.1:c.589-43T>G	XP_024305047.1:n.589-43T>G
NM_000020.3:c.1378-43T>G MANE Select	NP_000011.2:n.1378-43T>G
NM_001077401.2:c.1378-43T>G	NP_001070869.1:n.1378-43T>G