Canonical Allele Identifier: CA384897549

Gene: ACVRL1

Linked Data

• MyVariant Identifiers: chr12:g.52306930G>A (hg19) ; chr12:g.51913146G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913146G>A , CM000674.2:g.51913146G>A	GRCh38
NC_000012.11:g.52306930G>A , CM000674.1:g.52306930G>A	GRCh37
NC_000012.10:g.50593197G>A	NCBI36
NG_009549.1:g.10729G>A , LRG_543:g.10729G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.151G>A	ENSP00000446724.2:p.Glu51Lys
ENST00000551576.6:c.109G>A	ENSP00000455848.2:p.Glu37Lys
ENST00000552678.2:c.109G>A	ENSP00000457394.2:p.Glu37Lys
ENST00000388922.9:c.109G>A MANE Select	ENSP00000373574.4:p.Glu37Lys
ENST00000388922.8:c.109G>A	ENSP00000373574.4:p.Glu37Lys
ENST00000419526.6:c.103+611G>A	ENSP00000392492.2:n.103+611G>A
ENST00000547400.5:c.151G>A	ENSP00000446724.1:p.Glu51Lys
ENST00000550683.5:c.151G>A	ENSP00000447884.1:p.Glu51Lys
ENST00000551576.5:c.109G>A	ENSP00000455848.1:p.Glu37Lys
NM_000020.2:c.109G>A , LRG_543t1:c.109G>A	NP_000011.2:p.Glu37Lys
NM_001077401.1:c.109G>A	NP_001070869.1:p.Glu37Lys
XM_005269235.2:c.109G>A	XP_005269292.1:p.Glu37Lys
XM_011539008.1:c.151G>A	XP_011537310.1:p.Glu51Lys
NM_000020.3:c.109G>A MANE Select	NP_000011.2:p.Glu37Lys
NM_001077401.2:c.109G>A	NP_001070869.1:p.Glu37Lys