Canonical Allele Identifier: CA384904129

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 426030
• ClinVar RCV Id: RCV000488495 ; RCV000814063 ; RCV001755727
• dbSNP Id: rs1085307421
• MyVariant Identifiers: chr12:g.52312846G>A (hg19) ; chr12:g.51919062G>A (hg38)
• PubMed: PMID:20056902 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919062G>A , CM000674.2:g.51919062G>A	GRCh38
NC_000012.11:g.52312846G>A , CM000674.1:g.52312846G>A	GRCh37
NC_000012.10:g.50599113G>A	NCBI36
NG_009549.1:g.16645G>A , LRG_543:g.16645G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1054G>A	ENSP00000446724.2:p.Val352Met
ENST00000551576.6:c.1324G>A	ENSP00000455848.2:p.Val442Met
ENST00000552678.2:c.1324G>A	ENSP00000457394.2:p.Val442Met
ENST00000388922.9:c.1324G>A MANE Select	ENSP00000373574.4:p.Val442Met
ENST00000388922.8:c.1324G>A	ENSP00000373574.4:p.Val442Met
ENST00000419526.6:c.802G>A	ENSP00000392492.2:p.Val268Met
ENST00000547632.1:n.599G>A
ENST00000550683.5:c.1366G>A	ENSP00000447884.1:p.Val456Met
ENST00000552678.1:c.329G>A
NM_000020.2:c.1324G>A , LRG_543t1:c.1324G>A	NP_000011.2:p.Val442Met
NM_001077401.1:c.1324G>A	NP_001070869.1:p.Val442Met
XM_005269235.2:c.1324G>A	XP_005269292.1:p.Val442Met
XM_011539008.1:c.1054G>A	XP_011537310.1:p.Val352Met
XM_024449279.1:c.535G>A	XP_024305047.1:p.Val179Met
NM_000020.3:c.1324G>A MANE Select	NP_000011.2:p.Val442Met
NM_001077401.2:c.1324G>A	NP_001070869.1:p.Val442Met