Canonical Allele Identifier: CA384897604

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 859439
• ClinVar RCV Id: RCV001065552
• dbSNP Id: rs1184716348
• gnomAD v2: 12-52306943-G-A
• MyVariant Identifiers: chr12:g.52306943G>A (hg19) ; chr12:g.51913159G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913159G>A , CM000674.2:g.51913159G>A	GRCh38
NC_000012.11:g.52306943G>A , CM000674.1:g.52306943G>A	GRCh37
NC_000012.10:g.50593210G>A	NCBI36
NG_009549.1:g.10742G>A , LRG_543:g.10742G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.164G>A	ENSP00000446724.2:p.Cys55Tyr
ENST00000551576.6:c.122G>A	ENSP00000455848.2:p.Cys41Tyr
ENST00000552678.2:c.122G>A	ENSP00000457394.2:p.Cys41Tyr
ENST00000388922.9:c.122G>A MANE Select	ENSP00000373574.4:p.Cys41Tyr
ENST00000388922.8:c.122G>A	ENSP00000373574.4:p.Cys41Tyr
ENST00000419526.6:c.103+624G>A	ENSP00000392492.2:n.103+624G>A
ENST00000547400.5:c.164G>A	ENSP00000446724.1:p.Cys55Tyr
ENST00000550683.5:c.164G>A	ENSP00000447884.1:p.Cys55Tyr
ENST00000551576.5:c.122G>A	ENSP00000455848.1:p.Cys41Tyr
NM_000020.2:c.122G>A , LRG_543t1:c.122G>A	NP_000011.2:p.Cys41Tyr
NM_001077401.1:c.122G>A	NP_001070869.1:p.Cys41Tyr
XM_005269235.2:c.122G>A	XP_005269292.1:p.Cys41Tyr
XM_011539008.1:c.164G>A	XP_011537310.1:p.Cys55Tyr
NM_000020.3:c.122G>A MANE Select	NP_000011.2:p.Cys41Tyr
NM_001077401.2:c.122G>A	NP_001070869.1:p.Cys41Tyr