Canonical Allele Identifier: CA2036266028

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912354C= , CM000674.2:g.51912354C=	GRCh38
NC_000012.11:g.52306138C= , CM000674.1:g.52306138C=	GRCh37
NC_000012.10:g.50592405C=	NCBI36
NG_009549.1:g.9937C= , LRG_543:g.9937C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-79C=	ENSP00000446724.2:n.-79C=
ENST00000551576.6:c.-5-116C=	ENSP00000455848.2:n.-5-116C=
ENST00000552678.2:c.-5-116C=	ENSP00000457394.2:n.-5-116C=
ENST00000388922.9:c.-5-116C= MANE Select	ENSP00000373574.4:n.-5-116C=
ENST00000388922.8:c.-5-116C=	ENSP00000373574.4:n.-5-116C=
ENST00000547400.5:c.-79C=	ENSP00000446724.1:n.-79C=
ENST00000550683.5:c.-79C=	ENSP00000447884.1:n.-79C=
ENST00000551576.5:c.-5-116C=	ENSP00000455848.1:n.-5-116C=
NM_000020.2:c.-5-116C= , LRG_543t1:c.-5-116C=	NP_000011.2:n.-5-116C=
NM_001077401.1:c.-121C=	NP_001070869.1:n.-121C=
XM_005269235.2:c.-5-116C=	XP_005269292.1:n.-5-116C=
XM_011539008.1:c.-79C=	XP_011537310.1:n.-79C=
NM_000020.3:c.-5-116C= MANE Select	NP_000011.2:n.-5-116C=