Canonical Allele Identifier: CA384905708

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2696670
• ClinVar RCV Id: RCV003509933
• MyVariant Identifiers: chr12:g.52314603C>A (hg19) ; chr12:g.51920819C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920819C>A , CM000674.2:g.51920819C>A	GRCh38
NC_000012.11:g.52314603C>A , CM000674.1:g.52314603C>A	GRCh37
NC_000012.10:g.50600870C>A	NCBI36
NG_009549.1:g.18402C>A , LRG_543:g.18402C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1168C>A	ENSP00000446724.2:p.Leu390Ile
ENST00000551576.6:c.1438C>A	ENSP00000455848.2:p.Leu480Ile
ENST00000388922.9:c.1438C>A MANE Select	ENSP00000373574.4:p.Leu480Ile
ENST00000388922.8:c.1438C>A	ENSP00000373574.4:p.Leu480Ile
ENST00000419526.6:c.916C>A	ENSP00000392492.2:p.Leu306Ile
ENST00000550683.5:c.1480C>A	ENSP00000447884.1:p.Leu494Ile
NM_000020.2:c.1438C>A , LRG_543t1:c.1438C>A	NP_000011.2:p.Leu480Ile
NM_001077401.1:c.1438C>A	NP_001070869.1:p.Leu480Ile
XM_005269235.2:c.1438C>A	XP_005269292.1:p.Leu480Ile
XM_011539008.1:c.1168C>A	XP_011537310.1:p.Leu390Ile
XM_024449279.1:c.649C>A	XP_024305047.1:p.Leu217Ile
NM_000020.3:c.1438C>A MANE Select	NP_000011.2:p.Leu480Ile
NM_001077401.2:c.1438C>A	NP_001070869.1:p.Leu480Ile