Canonical Allele Identifier: CA384900694

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1482657
• ClinVar RCV Id: RCV002002987
• dbSNP Id: rs2139073155
• MyVariant Identifiers: chr12:g.52309117T>G (hg19) ; chr12:g.51915333T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915333T>G , CM000674.2:g.51915333T>G	GRCh38
NC_000012.11:g.52309117T>G , CM000674.1:g.52309117T>G	GRCh37
NC_000012.10:g.50595384T>G	NCBI36
NG_009549.1:g.12916T>G , LRG_543:g.12916T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.611T>G	ENSP00000446724.2:p.Leu204Arg
ENST00000551576.6:c.881T>G	ENSP00000455848.2:p.Leu294Arg
ENST00000552678.2:c.881T>G	ENSP00000457394.2:p.Leu294Arg
ENST00000388922.9:c.881T>G MANE Select	ENSP00000373574.4:p.Leu294Arg
ENST00000388922.8:c.881T>G	ENSP00000373574.4:p.Leu294Arg
ENST00000419526.6:c.359T>G	ENSP00000392492.2:p.Leu120Arg
ENST00000550683.5:c.923T>G	ENSP00000447884.1:p.Leu308Arg
NM_000020.2:c.881T>G , LRG_543t1:c.881T>G	NP_000011.2:p.Leu294Arg
NM_001077401.1:c.881T>G	NP_001070869.1:p.Leu294Arg
XM_005269235.2:c.881T>G	XP_005269292.1:p.Leu294Arg
XM_011539008.1:c.611T>G	XP_011537310.1:p.Leu204Arg
XM_024449279.1:c.92T>G	XP_024305047.1:p.Leu31Arg
NM_000020.3:c.881T>G MANE Select	NP_000011.2:p.Leu294Arg
NM_001077401.2:c.881T>G	NP_001070869.1:p.Leu294Arg