Canonical Allele Identifier: CA384897883

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1263846693
• gnomAD v3: 12-51913234-A-G
• gnomAD v4: 12-51913234-A-G
• MyVariant Identifiers: chr12:g.52307018A>G (hg19) ; chr12:g.51913234A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913234A>G , CM000674.2:g.51913234A>G	GRCh38
NC_000012.11:g.52307018A>G , CM000674.1:g.52307018A>G	GRCh37
NC_000012.10:g.50593285A>G	NCBI36
NG_009549.1:g.10817A>G , LRG_543:g.10817A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.239A>G	ENSP00000446724.2:p.His80Arg
ENST00000551576.6:c.197A>G	ENSP00000455848.2:p.His66Arg
ENST00000552678.2:c.197A>G	ENSP00000457394.2:p.His66Arg
ENST00000388922.9:c.197A>G MANE Select	ENSP00000373574.4:p.His66Arg
ENST00000388922.8:c.197A>G	ENSP00000373574.4:p.His66Arg
ENST00000419526.6:c.103+699A>G	ENSP00000392492.2:n.103+699A>G
ENST00000547400.5:c.239A>G	ENSP00000446724.1:p.His80Arg
ENST00000550683.5:c.239A>G	ENSP00000447884.1:p.His80Arg
ENST00000551576.5:c.197A>G	ENSP00000455848.1:p.His66Arg
NM_000020.2:c.197A>G , LRG_543t1:c.197A>G	NP_000011.2:p.His66Arg
NM_001077401.1:c.197A>G	NP_001070869.1:p.His66Arg
XM_005269235.2:c.197A>G	XP_005269292.1:p.His66Arg
XM_011539008.1:c.239A>G	XP_011537310.1:p.His80Arg
NM_000020.3:c.197A>G MANE Select	NP_000011.2:p.His66Arg
NM_001077401.2:c.197A>G	NP_001070869.1:p.His66Arg