Canonical Allele Identifier: CA384901836

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 838286
• ClinVar RCV Id: RCV001039802
• dbSNP Id: rs1940813954
• MyVariant Identifiers: chr12:g.52309278G>T (hg19) ; chr12:g.51915494G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915494G>T , CM000674.2:g.51915494G>T	GRCh38
NC_000012.11:g.52309278G>T , CM000674.1:g.52309278G>T	GRCh37
NC_000012.10:g.50595545G>T	NCBI36
NG_009549.1:g.13077G>T , LRG_543:g.13077G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.772G>T	ENSP00000446724.2:p.Asp258Tyr
ENST00000551576.6:c.1042G>T	ENSP00000455848.2:p.Asp348Tyr
ENST00000552678.2:c.1042G>T	ENSP00000457394.2:p.Asp348Tyr
ENST00000388922.9:c.1042G>T MANE Select	ENSP00000373574.4:p.Asp348Tyr
ENST00000388922.8:c.1042G>T	ENSP00000373574.4:p.Asp348Tyr
ENST00000419526.6:c.520G>T	ENSP00000392492.2:p.Asp174Tyr
ENST00000550683.5:c.1084G>T	ENSP00000447884.1:p.Asp362Tyr
ENST00000552678.1:c.47G>T
NM_000020.2:c.1042G>T , LRG_543t1:c.1042G>T	NP_000011.2:p.Asp348Tyr
NM_001077401.1:c.1042G>T	NP_001070869.1:p.Asp348Tyr
XM_005269235.2:c.1042G>T	XP_005269292.1:p.Asp348Tyr
XM_011539008.1:c.772G>T	XP_011537310.1:p.Asp258Tyr
XM_024449279.1:c.253G>T	XP_024305047.1:p.Asp85Tyr
NM_000020.3:c.1042G>T MANE Select	NP_000011.2:p.Asp348Tyr
NM_001077401.2:c.1042G>T	NP_001070869.1:p.Asp348Tyr