Canonical Allele Identifier: CA2036267833

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913566A= , CM000674.2:g.51913566A=	GRCh38
NC_000012.11:g.52307350A= , CM000674.1:g.52307350A=	GRCh37
NC_000012.10:g.50593617A=	NCBI36
NG_009549.1:g.11149A= , LRG_543:g.11149A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+216A=	ENSP00000446724.2:n.355+216A=
ENST00000551576.6:c.321A=	ENSP00000455848.2:p.Gln107=
ENST00000552678.2:c.321A=	ENSP00000457394.2:p.Gln107=
ENST00000388922.9:c.321A= MANE Select	ENSP00000373574.4:p.Gln107=
ENST00000388922.8:c.321A=	ENSP00000373574.4:p.Gln107=
ENST00000419526.6:c.104-873A=	ENSP00000392492.2:n.104-873A=
ENST00000547400.5:c.355+216A=	ENSP00000446724.1:n.355+216A=
ENST00000550683.5:c.363A=	ENSP00000447884.1:p.Gln121=
NM_000020.2:c.321A= , LRG_543t1:c.321A=	NP_000011.2:p.Gln107=
NM_001077401.1:c.321A=	NP_001070869.1:p.Gln107=
XM_005269235.2:c.321A=	XP_005269292.1:p.Gln107=
XM_011539008.1:c.355+216A=	XP_011537310.1:n.355+216A=
XM_024449279.1:c.-369A=	XP_024305047.1:n.-369A=
NM_000020.3:c.321A= MANE Select	NP_000011.2:p.Gln107=
NM_001077401.2:c.321A=	NP_001070869.1:p.Gln107=