Canonical Allele Identifier: CA384905301

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52314556T>G (hg19) ; chr12:g.51920772T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920772T>G , CM000674.2:g.51920772T>G	GRCh38
NC_000012.11:g.52314556T>G , CM000674.1:g.52314556T>G	GRCh37
NC_000012.10:g.50600823T>G	NCBI36
NG_009549.1:g.18355T>G , LRG_543:g.18355T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1121T>G	ENSP00000446724.2:p.Leu374Arg
ENST00000551576.6:c.1391T>G	ENSP00000455848.2:p.Leu464Arg
ENST00000388922.9:c.1391T>G MANE Select	ENSP00000373574.4:p.Leu464Arg
ENST00000388922.8:c.1391T>G	ENSP00000373574.4:p.Leu464Arg
ENST00000419526.6:c.869T>G	ENSP00000392492.2:p.Leu290Arg
ENST00000550683.5:c.1433T>G	ENSP00000447884.1:p.Leu478Arg
NM_000020.2:c.1391T>G , LRG_543t1:c.1391T>G	NP_000011.2:p.Leu464Arg
NM_001077401.1:c.1391T>G	NP_001070869.1:p.Leu464Arg
XM_005269235.2:c.1391T>G	XP_005269292.1:p.Leu464Arg
XM_011539008.1:c.1121T>G	XP_011537310.1:p.Leu374Arg
XM_024449279.1:c.602T>G	XP_024305047.1:p.Leu201Arg
NM_000020.3:c.1391T>G MANE Select	NP_000011.2:p.Leu464Arg
NM_001077401.2:c.1391T>G	NP_001070869.1:p.Leu464Arg