Canonical Allele Identifier: CA384901862

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915498T>G , CM000674.2:g.51915498T>G	GRCh38
NC_000012.11:g.52309282T>G , CM000674.1:g.52309282T>G	GRCh37
NC_000012.10:g.50595549T>G	NCBI36
NG_009549.1:g.13081T>G , LRG_543:g.13081T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.776T>G	ENSP00000446724.2:p.Leu259Arg
ENST00000551576.6:c.1046T>G	ENSP00000455848.2:p.Leu349Arg
ENST00000552678.2:c.1046T>G	ENSP00000457394.2:p.Leu349Arg
ENST00000388922.9:c.1046T>G MANE Select	ENSP00000373574.4:p.Leu349Arg
ENST00000388922.8:c.1046T>G	ENSP00000373574.4:p.Leu349Arg
ENST00000419526.6:c.524T>G	ENSP00000392492.2:p.Leu175Arg
ENST00000550683.5:c.1088T>G	ENSP00000447884.1:p.Leu363Arg
ENST00000552678.1:c.51T>G
NM_000020.2:c.1046T>G , LRG_543t1:c.1046T>G	NP_000011.2:p.Leu349Arg
NM_001077401.1:c.1046T>G	NP_001070869.1:p.Leu349Arg
XM_005269235.2:c.1046T>G	XP_005269292.1:p.Leu349Arg
XM_011539008.1:c.776T>G	XP_011537310.1:p.Leu259Arg
XM_024449279.1:c.257T>G	XP_024305047.1:p.Leu86Arg
NM_000020.3:c.1046T>G MANE Select	NP_000011.2:p.Leu349Arg
NM_001077401.2:c.1046T>G	NP_001070869.1:p.Leu349Arg