Canonical Allele Identifier: CA2036241702

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920783A= , CM000674.2:g.51920783A=	GRCh38
NC_000012.11:g.52314567A= , CM000674.1:g.52314567A=	GRCh37
NC_000012.10:g.50600834A=	NCBI36
NG_009549.1:g.18366A= , LRG_543:g.18366A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1132A=	ENSP00000446724.2:p.Met378=
ENST00000551576.6:c.1402A=	ENSP00000455848.2:p.Met468=
ENST00000388922.9:c.1402A= MANE Select	ENSP00000373574.4:p.Met468=
ENST00000388922.8:c.1402A=	ENSP00000373574.4:p.Met468=
ENST00000419526.6:c.880A=	ENSP00000392492.2:p.Met294=
ENST00000550683.5:c.1444A=	ENSP00000447884.1:p.Met482=
NM_000020.2:c.1402A= , LRG_543t1:c.1402A=	NP_000011.2:p.Met468=
NM_001077401.1:c.1402A=	NP_001070869.1:p.Met468=
XM_005269235.2:c.1402A=	XP_005269292.1:p.Met468=
XM_011539008.1:c.1132A=	XP_011537310.1:p.Met378=
XM_024449279.1:c.613A=	XP_024305047.1:p.Met205=
NM_000020.3:c.1402A= MANE Select	NP_000011.2:p.Met468=
NM_001077401.2:c.1402A=	NP_001070869.1:p.Met468=