Canonical Allele Identifier: CA2036269476

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915352G= , CM000674.2:g.51915352G=	GRCh38
NC_000012.11:g.52309136G= , CM000674.1:g.52309136G=	GRCh37
NC_000012.10:g.50595403G=	NCBI36
NG_009549.1:g.12935G= , LRG_543:g.12935G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.630G=	ENSP00000446724.2:p.Leu210=
ENST00000551576.6:c.900G=	ENSP00000455848.2:p.Leu300=
ENST00000552678.2:c.900G=	ENSP00000457394.2:p.Leu300=
ENST00000388922.9:c.900G= MANE Select	ENSP00000373574.4:p.Leu300=
ENST00000388922.8:c.900G=	ENSP00000373574.4:p.Leu300=
ENST00000419526.6:c.378G=	ENSP00000392492.2:p.Leu126=
ENST00000550683.5:c.942G=	ENSP00000447884.1:p.Leu314=
NM_000020.2:c.900G= , LRG_543t1:c.900G=	NP_000011.2:p.Leu300=
NM_001077401.1:c.900G=	NP_001070869.1:p.Leu300=
XM_005269235.2:c.900G=	XP_005269292.1:p.Leu300=
XM_011539008.1:c.630G=	XP_011537310.1:p.Leu210=
XM_024449279.1:c.111G=	XP_024305047.1:p.Leu37=
NM_000020.3:c.900G= MANE Select	NP_000011.2:p.Leu300=
NM_001077401.2:c.900G=	NP_001070869.1:p.Leu300=