Canonical Allele Identifier: CA119408

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 8254
• ClinVar RCV Id: RCV000008742 ; RCV000008743 ; RCV001507809 ; RCV001844010 ; RCV002381244
• dbSNP Id: rs28936688
• gnomAD v4: 12-51915483-G-A
• MyVariant Identifiers: chr12:g.52309267G>A (hg19) ; chr12:g.51915483G>A (hg38)
• PubMed: PMID:10767348 ; PMID:14684682

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915483G>A , CM000674.2:g.51915483G>A	GRCh38
NC_000012.11:g.52309267G>A , CM000674.1:g.52309267G>A	GRCh37
NC_000012.10:g.50595534G>A	NCBI36
NG_009549.1:g.13066G>A , LRG_543:g.13066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.761G>A	ENSP00000446724.2:p.Cys254Tyr
ENST00000551576.6:c.1031G>A	ENSP00000455848.2:p.Cys344Tyr
ENST00000552678.2:c.1031G>A	ENSP00000457394.2:p.Cys344Tyr
ENST00000388922.9:c.1031G>A MANE Select	ENSP00000373574.4:p.Cys344Tyr
ENST00000388922.8:c.1031G>A	ENSP00000373574.4:p.Cys344Tyr
ENST00000419526.6:c.509G>A	ENSP00000392492.2:p.Cys170Tyr
ENST00000550683.5:c.1073G>A	ENSP00000447884.1:p.Cys358Tyr
ENST00000552678.1:c.36G>A
NM_000020.2:c.1031G>A , LRG_543t1:c.1031G>A	NP_000011.2:p.Cys344Tyr
NM_001077401.1:c.1031G>A	NP_001070869.1:p.Cys344Tyr
XM_005269235.2:c.1031G>A	XP_005269292.1:p.Cys344Tyr
XM_011539008.1:c.761G>A	XP_011537310.1:p.Cys254Tyr
XM_024449279.1:c.242G>A	XP_024305047.1:p.Cys81Tyr
NM_000020.3:c.1031G>A MANE Select	NP_000011.2:p.Cys344Tyr
NM_001077401.2:c.1031G>A	NP_001070869.1:p.Cys344Tyr