Canonical Allele Identifier: CA2036266110

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912398C= , CM000674.2:g.51912398C=	GRCh38
NC_000012.11:g.52306182C= , CM000674.1:g.52306182C=	GRCh37
NC_000012.10:g.50592449C=	NCBI36
NG_009549.1:g.9981C= , LRG_543:g.9981C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-35C=	ENSP00000446724.2:n.-35C=
ENST00000551576.6:c.-5-72C=	ENSP00000455848.2:n.-5-72C=
ENST00000552678.2:c.-5-72C=	ENSP00000457394.2:n.-5-72C=
ENST00000388922.9:c.-5-72C= MANE Select	ENSP00000373574.4:n.-5-72C=
ENST00000388922.8:c.-5-72C=	ENSP00000373574.4:n.-5-72C=
ENST00000419526.6:c.-35C=	ENSP00000392492.2:n.-35C=
ENST00000547400.5:c.-35C=	ENSP00000446724.1:n.-35C=
ENST00000550683.5:c.-35C=	ENSP00000447884.1:n.-35C=
ENST00000551576.5:c.-5-72C=	ENSP00000455848.1:n.-5-72C=
NM_000020.2:c.-5-72C= , LRG_543t1:c.-5-72C=	NP_000011.2:n.-5-72C=
NM_001077401.1:c.-77C=	NP_001070869.1:n.-77C=
XM_005269235.2:c.-5-72C=	XP_005269292.1:n.-5-72C=
XM_011539008.1:c.-35C=	XP_011537310.1:n.-35C=
NM_000020.3:c.-5-72C= MANE Select	NP_000011.2:n.-5-72C=
NM_001077401.2:c.-77C=	NP_001070869.1:n.-77C=