Canonical Allele Identifier: CA2036268426

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914063G= , CM000674.2:g.51914063G=	GRCh38
NC_000012.11:g.52307847G= , CM000674.1:g.52307847G=	GRCh37
NC_000012.10:g.50594114G=	NCBI36
NG_009549.1:g.11646G= , LRG_543:g.11646G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-376G=	ENSP00000446724.2:n.356-376G=
ENST00000551576.6:c.615G=	ENSP00000455848.2:p.Val205=
ENST00000552678.2:c.615G=	ENSP00000457394.2:p.Val205=
ENST00000388922.9:c.615G= MANE Select	ENSP00000373574.4:p.Val205=
ENST00000388922.8:c.615G=	ENSP00000373574.4:p.Val205=
ENST00000419526.6:c.104-376G=	ENSP00000392492.2:n.104-376G=
ENST00000547400.5:c.356-376G=	ENSP00000446724.1:n.356-376G=
ENST00000550683.5:c.657G=	ENSP00000447884.1:p.Val219=
NM_000020.2:c.615G= , LRG_543t1:c.615G=	NP_000011.2:p.Val205=
NM_001077401.1:c.615G=	NP_001070869.1:p.Val205=
XM_005269235.2:c.615G=	XP_005269292.1:p.Val205=
XM_011539008.1:c.356-376G=	XP_011537310.1:n.356-376G=
XM_024449279.1:c.-165+293G=	XP_024305047.1:n.-165+293G=
NM_000020.3:c.615G= MANE Select	NP_000011.2:p.Val205=
NM_001077401.2:c.615G=	NP_001070869.1:p.Val205=