Canonical Allele Identifier: CA2036242283

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51921111A= , CM000674.2:g.51921111A=	GRCh38
NC_000012.11:g.52314895A= , CM000674.1:g.52314895A=	GRCh37
NC_000012.10:g.50601162A=	NCBI36
NG_009549.1:g.18694A= , LRG_543:g.18694A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.*218A=	ENSP00000455848.2:n.*218A=
ENST00000388922.9:c.*218A= MANE Select	ENSP00000373574.4:n.*218A=
ENST00000419526.6:c.*218A=	ENSP00000392492.2:n.*218A=
ENST00000550683.5:c.*218A=	ENSP00000447884.1:n.*218A=
NM_000020.2:c.*218A= , LRG_543t1:c.*218A=	NP_000011.2:n.*218A=
NM_001077401.1:c.*218A=	NP_001070869.1:n.*218A=
XM_005269235.2:c.*218A=	XP_005269292.1:n.*218A=
XM_011539008.1:c.*218A=	XP_011537310.1:n.*218A=
XM_024449279.1:c.*218A=	XP_024305047.1:n.*218A=
NM_000020.3:c.*218A= MANE Select	NP_000011.2:n.*218A=
NM_001077401.2:c.*218A=	NP_001070869.1:n.*218A=