Canonical Allele Identifier: CA384905812

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1512139
• ClinVar RCV Id: RCV002022873 ; RCV002389032
• dbSNP Id: rs863223408
• MyVariant Identifiers: chr12:g.52314616G>C (hg19) ; chr12:g.51920832G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920832G>C , CM000674.2:g.51920832G>C	GRCh38
NC_000012.11:g.52314616G>C , CM000674.1:g.52314616G>C	GRCh37
NC_000012.10:g.50600883G>C	NCBI36
NG_009549.1:g.18415G>C , LRG_543:g.18415G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1181G>C	ENSP00000446724.2:p.Arg394Pro
ENST00000551576.6:c.1451G>C	ENSP00000455848.2:p.Arg484Pro
ENST00000388922.9:c.1451G>C MANE Select	ENSP00000373574.4:p.Arg484Pro
ENST00000388922.8:c.1451G>C	ENSP00000373574.4:p.Arg484Pro
ENST00000419526.6:c.929G>C	ENSP00000392492.2:p.Arg310Pro
ENST00000550683.5:c.1493G>C	ENSP00000447884.1:p.Arg498Pro
NM_000020.2:c.1451G>C , LRG_543t1:c.1451G>C	NP_000011.2:p.Arg484Pro
NM_001077401.1:c.1451G>C	NP_001070869.1:p.Arg484Pro
XM_005269235.2:c.1451G>C	XP_005269292.1:p.Arg484Pro
XM_011539008.1:c.1181G>C	XP_011537310.1:p.Arg394Pro
XM_024449279.1:c.662G>C	XP_024305047.1:p.Arg221Pro
NM_000020.3:c.1451G>C MANE Select	NP_000011.2:p.Arg484Pro
NM_001077401.2:c.1451G>C	NP_001070869.1:p.Arg484Pro