Canonical Allele Identifier: CA2036268946

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914452T= , CM000674.2:g.51914452T=	GRCh38
NC_000012.11:g.52308236T= , CM000674.1:g.52308236T=	GRCh37
NC_000012.10:g.50594503T=	NCBI36
NG_009549.1:g.12035T= , LRG_543:g.12035T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.369T=	ENSP00000446724.2:p.Tyr123=
ENST00000551576.6:c.639T=	ENSP00000455848.2:p.Tyr213=
ENST00000552678.2:c.639T=	ENSP00000457394.2:p.Tyr213=
ENST00000388922.9:c.639T= MANE Select	ENSP00000373574.4:p.Tyr213=
ENST00000388922.8:c.639T=	ENSP00000373574.4:p.Tyr213=
ENST00000419526.6:c.117T=	ENSP00000392492.2:p.Tyr39=
ENST00000547400.5:c.369T=	ENSP00000446724.1:p.Tyr123=
ENST00000550683.5:c.681T=	ENSP00000447884.1:p.Tyr227=
NM_000020.2:c.639T= , LRG_543t1:c.639T=	NP_000011.2:p.Tyr213=
NM_001077401.1:c.639T=	NP_001070869.1:p.Tyr213=
XM_005269235.2:c.639T=	XP_005269292.1:p.Tyr213=
XM_011539008.1:c.369T=	XP_011537310.1:p.Tyr123=
XM_024449279.1:c.-151T=	XP_024305047.1:n.-151T=
NM_000020.3:c.639T= MANE Select	NP_000011.2:p.Tyr213=
NM_001077401.2:c.639T=	NP_001070869.1:p.Tyr213=