Canonical Allele Identifier: CA2036239878

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919074C= , CM000674.2:g.51919074C=	GRCh38
NC_000012.11:g.52312858C= , CM000674.1:g.52312858C=	GRCh37
NC_000012.10:g.50599125C=	NCBI36
NG_009549.1:g.16657C= , LRG_543:g.16657C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.1336C= MANE Select	NP_000011.2:p.Gln446=
ENST00000388922.9:c.1336C= MANE Select	ENSP00000373574.4:p.Gln446=
NM_000020.2:c.1336C= , LRG_543t1:c.1336C=	NP_000011.2:p.Gln446=
NM_001077401.1:c.1336C=	NP_001070869.1:p.Gln446=
NM_001077401.2:c.1336C=	NP_001070869.1:p.Gln446=
ENST00000388922.8:c.1336C=	ENSP00000373574.4:p.Gln446=
ENST00000419526.6:c.814C=	ENSP00000392492.2:p.Gln272=
ENST00000547400.6:c.1066C=	ENSP00000446724.2:p.Gln356=
ENST00000547632.1:n.611C=
ENST00000550683.5:c.1378C=	ENSP00000447884.1:p.Gln460=
ENST00000551576.6:c.1336C=	ENSP00000455848.2:p.Gln446=
ENST00000552678.1:c.341C=
ENST00000552678.2:c.1336C=	ENSP00000457394.2:p.Gln446=
XM_005269235.2:c.1336C=	XP_005269292.1:p.Gln446=
XM_011539008.1:c.1066C=	XP_011537310.1:p.Gln356=
XM_024449279.1:c.547C=	XP_024305047.1:p.Gln183=