Canonical Allele Identifier: CA384901793

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2700577
• ClinVar RCV Id: RCV003510519
• MyVariant Identifiers: chr12:g.52309274C>G (hg19) ; chr12:g.51915490C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915490C>G , CM000674.2:g.51915490C>G	GRCh38
NC_000012.11:g.52309274C>G , CM000674.1:g.52309274C>G	GRCh37
NC_000012.10:g.50595541C>G	NCBI36
NG_009549.1:g.13073C>G , LRG_543:g.13073C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.768C>G	ENSP00000446724.2:p.Ile256Met
ENST00000551576.6:c.1038C>G	ENSP00000455848.2:p.Ile346Met
ENST00000552678.2:c.1038C>G	ENSP00000457394.2:p.Ile346Met
ENST00000388922.9:c.1038C>G MANE Select	ENSP00000373574.4:p.Ile346Met
ENST00000388922.8:c.1038C>G	ENSP00000373574.4:p.Ile346Met
ENST00000419526.6:c.516C>G	ENSP00000392492.2:p.Ile172Met
ENST00000550683.5:c.1080C>G	ENSP00000447884.1:p.Ile360Met
ENST00000552678.1:c.43C>G
NM_000020.2:c.1038C>G , LRG_543t1:c.1038C>G	NP_000011.2:p.Ile346Met
NM_001077401.1:c.1038C>G	NP_001070869.1:p.Ile346Met
XM_005269235.2:c.1038C>G	XP_005269292.1:p.Ile346Met
XM_011539008.1:c.768C>G	XP_011537310.1:p.Ile256Met
XM_024449279.1:c.249C>G	XP_024305047.1:p.Ile83Met
NM_000020.3:c.1038C>G MANE Select	NP_000011.2:p.Ile346Met
NM_001077401.2:c.1038C>G	NP_001070869.1:p.Ile346Met