Canonical Allele Identifier: CA384902433

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 426024
• ClinVar RCV Id: RCV000488853 ; RCV000792743
• dbSNP Id: rs1085307416
• MyVariant Identifiers: chr12:g.52309895A>G (hg19) ; chr12:g.51916111A>G (hg38)
• PubMed: PMID:23919827 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916111A>G , CM000674.2:g.51916111A>G	GRCh38
NC_000012.11:g.52309895A>G , CM000674.1:g.52309895A>G	GRCh37
NC_000012.10:g.50596162A>G	NCBI36
NG_009549.1:g.13694A>G , LRG_543:g.13694A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.854A>G	ENSP00000446724.2:p.Tyr285Cys
ENST00000551576.6:c.1124A>G	ENSP00000455848.2:p.Tyr375Cys
ENST00000552678.2:c.1124A>G	ENSP00000457394.2:p.Tyr375Cys
ENST00000388922.9:c.1124A>G MANE Select	ENSP00000373574.4:p.Tyr375Cys
ENST00000388922.8:c.1124A>G	ENSP00000373574.4:p.Tyr375Cys
ENST00000419526.6:c.602A>G	ENSP00000392492.2:p.Tyr201Cys
ENST00000547632.1:n.399A>G
ENST00000550683.5:c.1166A>G	ENSP00000447884.1:p.Tyr389Cys
ENST00000552678.1:c.129A>G
NM_000020.2:c.1124A>G , LRG_543t1:c.1124A>G	NP_000011.2:p.Tyr375Cys
NM_001077401.1:c.1124A>G	NP_001070869.1:p.Tyr375Cys
XM_005269235.2:c.1124A>G	XP_005269292.1:p.Tyr375Cys
XM_011539008.1:c.854A>G	XP_011537310.1:p.Tyr285Cys
XM_024449279.1:c.335A>G	XP_024305047.1:p.Tyr112Cys
NM_000020.3:c.1124A>G MANE Select	NP_000011.2:p.Tyr375Cys
NM_001077401.2:c.1124A>G	NP_001070869.1:p.Tyr375Cys