Canonical Allele Identifier: CA2036267870

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913633C= , CM000674.2:g.51913633C=	GRCh38
NC_000012.11:g.52307417C= , CM000674.1:g.52307417C=	GRCh37
NC_000012.10:g.50593684C=	NCBI36
NG_009549.1:g.11216C= , LRG_543:g.11216C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+283C=	ENSP00000446724.2:n.355+283C=
ENST00000551576.6:c.388C=	ENSP00000455848.2:p.Leu130=
ENST00000552678.2:c.388C=	ENSP00000457394.2:p.Leu130=
ENST00000388922.9:c.388C= MANE Select	ENSP00000373574.4:p.Leu130=
ENST00000388922.8:c.388C=	ENSP00000373574.4:p.Leu130=
ENST00000419526.6:c.104-806C=	ENSP00000392492.2:n.104-806C=
ENST00000547400.5:c.355+283C=	ENSP00000446724.1:n.355+283C=
ENST00000550683.5:c.430C=	ENSP00000447884.1:p.Leu144=
NM_000020.2:c.388C= , LRG_543t1:c.388C=	NP_000011.2:p.Leu130=
NM_001077401.1:c.388C=	NP_001070869.1:p.Leu130=
XM_005269235.2:c.388C=	XP_005269292.1:p.Leu130=
XM_011539008.1:c.355+283C=	XP_011537310.1:n.355+283C=
XM_024449279.1:c.-302C=	XP_024305047.1:n.-302C=
NM_000020.3:c.388C= MANE Select	NP_000011.2:p.Leu130=
NM_001077401.2:c.388C=	NP_001070869.1:p.Leu130=