Canonical Allele Identifier: CA2036269447

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915298C= , CM000674.2:g.51915298C=	GRCh38
NC_000012.11:g.52309082C= , CM000674.1:g.52309082C=	GRCh37
NC_000012.10:g.50595349C=	NCBI36
NG_009549.1:g.12881C= , LRG_543:g.12881C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.576C=	ENSP00000446724.2:p.His192=
ENST00000551576.6:c.846C=	ENSP00000455848.2:p.His282=
ENST00000552678.2:c.846C=	ENSP00000457394.2:p.His282=
ENST00000388922.9:c.846C= MANE Select	ENSP00000373574.4:p.His282=
ENST00000388922.8:c.846C=	ENSP00000373574.4:p.His282=
ENST00000419526.6:c.324C=	ENSP00000392492.2:p.His108=
ENST00000550683.5:c.888C=	ENSP00000447884.1:p.His296=
NM_000020.2:c.846C= , LRG_543t1:c.846C=	NP_000011.2:p.His282=
NM_001077401.1:c.846C=	NP_001070869.1:p.His282=
XM_005269235.2:c.846C=	XP_005269292.1:p.His282=
XM_011539008.1:c.576C=	XP_011537310.1:p.His192=
XM_024449279.1:c.57C=	XP_024305047.1:p.His19=
NM_000020.3:c.846C= MANE Select	NP_000011.2:p.His282=
NM_001077401.2:c.846C=	NP_001070869.1:p.His282=