Canonical Allele Identifier: CA2036241759

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920799A= , CM000674.2:g.51920799A=	GRCh38
NC_000012.11:g.52314583A= , CM000674.1:g.52314583A=	GRCh37
NC_000012.10:g.50600850A=	NCBI36
NG_009549.1:g.18382A= , LRG_543:g.18382A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1148A=	ENSP00000446724.2:p.Tyr383=
ENST00000551576.6:c.1418A=	ENSP00000455848.2:p.Tyr473=
ENST00000388922.9:c.1418A= MANE Select	ENSP00000373574.4:p.Tyr473=
ENST00000388922.8:c.1418A=	ENSP00000373574.4:p.Tyr473=
ENST00000419526.6:c.896A=	ENSP00000392492.2:p.Tyr299=
ENST00000550683.5:c.1460A=	ENSP00000447884.1:p.Tyr487=
NM_000020.2:c.1418A= , LRG_543t1:c.1418A=	NP_000011.2:p.Tyr473=
NM_001077401.1:c.1418A=	NP_001070869.1:p.Tyr473=
XM_005269235.2:c.1418A=	XP_005269292.1:p.Tyr473=
XM_011539008.1:c.1148A=	XP_011537310.1:p.Tyr383=
XM_024449279.1:c.629A=	XP_024305047.1:p.Tyr210=
NM_000020.3:c.1418A= MANE Select	NP_000011.2:p.Tyr473=
NM_001077401.2:c.1418A=	NP_001070869.1:p.Tyr473=