Canonical Allele Identifier: CA384897542
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1786073
ClinVar RCV Id: RCV002424385

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913144G>A , CM000674.2:g.51913144G>A GRCh38
NC_000012.11:g.52306928G>A , CM000674.1:g.52306928G>A GRCh37
NC_000012.10:g.50593195G>A NCBI36
NG_009549.1:g.10727G>A , LRG_543:g.10727G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.149G>A ENSP00000446724.2:p.Cys50Tyr
ENST00000551576.6:c.107G>A ENSP00000455848.2:p.Cys36Tyr
ENST00000552678.2:c.107G>A ENSP00000457394.2:p.Cys36Tyr
ENST00000388922.9:c.107G>A MANE Select ENSP00000373574.4:p.Cys36Tyr
ENST00000388922.8:c.107G>A ENSP00000373574.4:p.Cys36Tyr
ENST00000419526.6:c.103+609G>A ENSP00000392492.2:n.103+609G>A
ENST00000547400.5:c.149G>A ENSP00000446724.1:p.Cys50Tyr
ENST00000550683.5:c.149G>A ENSP00000447884.1:p.Cys50Tyr
ENST00000551576.5:c.107G>A ENSP00000455848.1:p.Cys36Tyr
NM_000020.2:c.107G>A , LRG_543t1:c.107G>A NP_000011.2:p.Cys36Tyr
NM_001077401.1:c.107G>A NP_001070869.1:p.Cys36Tyr
XM_005269235.2:c.107G>A XP_005269292.1:p.Cys36Tyr
XM_011539008.1:c.149G>A XP_011537310.1:p.Cys50Tyr
NM_000020.3:c.107G>A MANE Select NP_000011.2:p.Cys36Tyr
NM_001077401.2:c.107G>A NP_001070869.1:p.Cys36Tyr