Canonical Allele Identifier: CA2036241659

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920759G= , CM000674.2:g.51920759G=	GRCh38
NC_000012.11:g.52314543G= , CM000674.1:g.52314543G=	GRCh37
NC_000012.10:g.50600810G=	NCBI36
NG_009549.1:g.18342G= , LRG_543:g.18342G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.1378G= MANE Select	NP_000011.2:p.Val460=
ENST00000388922.9:c.1378G= MANE Select	ENSP00000373574.4:p.Val460=
NM_000020.2:c.1378G= , LRG_543t1:c.1378G=	NP_000011.2:p.Val460=
NM_001077401.1:c.1378G=	NP_001070869.1:p.Val460=
NM_001077401.2:c.1378G=	NP_001070869.1:p.Val460=
ENST00000388922.8:c.1378G=	ENSP00000373574.4:p.Val460=
ENST00000419526.6:c.856G=	ENSP00000392492.2:p.Val286=
ENST00000547400.6:c.1108G=	ENSP00000446724.2:p.Val370=
ENST00000550683.5:c.1420G=	ENSP00000447884.1:p.Val474=
ENST00000551576.6:c.1378G=	ENSP00000455848.2:p.Val460=
XM_005269235.2:c.1378G=	XP_005269292.1:p.Val460=
XM_011539008.1:c.1108G=	XP_011537310.1:p.Val370=
XM_024449279.1:c.589G=	XP_024305047.1:p.Val197=