Canonical Allele Identifier: CA384902882

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 426026
• ClinVar RCV Id: RCV002496883
• dbSNP Id: rs1085307418
• MyVariant Identifiers: chr12:g.52309966T>C (hg19) ; chr12:g.51916182T>C (hg38)
• PubMed: PMID:23919827 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916182T>C , CM000674.2:g.51916182T>C	GRCh38
NC_000012.11:g.52309966T>C , CM000674.1:g.52309966T>C	GRCh37
NC_000012.10:g.50596233T>C	NCBI36
NG_009549.1:g.13765T>C , LRG_543:g.13765T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.925T>C	ENSP00000446724.2:p.Trp309Arg
ENST00000551576.6:c.1195T>C	ENSP00000455848.2:p.Trp399Arg
ENST00000552678.2:c.1195T>C	ENSP00000457394.2:p.Trp399Arg
ENST00000388922.9:c.1195T>C MANE Select	ENSP00000373574.4:p.Trp399Arg
ENST00000388922.8:c.1195T>C	ENSP00000373574.4:p.Trp399Arg
ENST00000419526.6:c.673T>C	ENSP00000392492.2:p.Trp225Arg
ENST00000547632.1:n.470T>C
ENST00000550683.5:c.1237T>C	ENSP00000447884.1:p.Trp413Arg
ENST00000552678.1:c.200T>C
NM_000020.2:c.1195T>C , LRG_543t1:c.1195T>C	NP_000011.2:p.Trp399Arg
NM_001077401.1:c.1195T>C	NP_001070869.1:p.Trp399Arg
XM_005269235.2:c.1195T>C	XP_005269292.1:p.Trp399Arg
XM_011539008.1:c.925T>C	XP_011537310.1:p.Trp309Arg
XM_024449279.1:c.406T>C	XP_024305047.1:p.Trp136Arg
NM_000020.3:c.1195T>C MANE Select	NP_000011.2:p.Trp399Arg
NM_001077401.2:c.1195T>C	NP_001070869.1:p.Trp399Arg