Canonical Allele Identifier: CA2036268403

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914050A= , CM000674.2:g.51914050A=	GRCh38
NC_000012.11:g.52307834A= , CM000674.1:g.52307834A=	GRCh37
NC_000012.10:g.50594101A=	NCBI36
NG_009549.1:g.11633A= , LRG_543:g.11633A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.602A= MANE Select	NP_000011.2:p.Gln201=
ENST00000388922.9:c.602A= MANE Select	ENSP00000373574.4:p.Gln201=
NM_000020.2:c.602A= , LRG_543t1:c.602A=	NP_000011.2:p.Gln201=
NM_001077401.1:c.602A=	NP_001070869.1:p.Gln201=
NM_001077401.2:c.602A=	NP_001070869.1:p.Gln201=
ENST00000388922.8:c.602A=	ENSP00000373574.4:p.Gln201=
ENST00000419526.6:c.104-389A=	ENSP00000392492.2:n.104-389A=
ENST00000547400.5:c.356-389A=	ENSP00000446724.1:n.356-389A=
ENST00000547400.6:c.356-389A=	ENSP00000446724.2:n.356-389A=
ENST00000550683.5:c.644A=	ENSP00000447884.1:p.Gln215=
ENST00000551576.6:c.602A=	ENSP00000455848.2:p.Gln201=
ENST00000552678.2:c.602A=	ENSP00000457394.2:p.Gln201=
XM_005269235.2:c.602A=	XP_005269292.1:p.Gln201=
XM_011539008.1:c.356-389A=	XP_011537310.1:n.356-389A=
XM_024449279.1:c.-165+280A=	XP_024305047.1:n.-165+280A=