Canonical Allele Identifier: CA384900547

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 982489
• ClinVar RCV Id: RCV001262083
• dbSNP Id: rs1940804461
• MyVariant Identifiers: chr12:g.52309084G>T (hg19) ; chr12:g.51915300G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915300G>T , CM000674.2:g.51915300G>T	GRCh38
NC_000012.11:g.52309084G>T , CM000674.1:g.52309084G>T	GRCh37
NC_000012.10:g.50595351G>T	NCBI36
NG_009549.1:g.12883G>T , LRG_543:g.12883G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.578G>T	ENSP00000446724.2:p.Gly193Val
ENST00000551576.6:c.848G>T	ENSP00000455848.2:p.Gly283Val
ENST00000552678.2:c.848G>T	ENSP00000457394.2:p.Gly283Val
ENST00000388922.9:c.848G>T MANE Select	ENSP00000373574.4:p.Gly283Val
ENST00000388922.8:c.848G>T	ENSP00000373574.4:p.Gly283Val
ENST00000419526.6:c.326G>T	ENSP00000392492.2:p.Gly109Val
ENST00000550683.5:c.890G>T	ENSP00000447884.1:p.Gly297Val
NM_000020.2:c.848G>T , LRG_543t1:c.848G>T	NP_000011.2:p.Gly283Val
NM_001077401.1:c.848G>T	NP_001070869.1:p.Gly283Val
XM_005269235.2:c.848G>T	XP_005269292.1:p.Gly283Val
XM_011539008.1:c.578G>T	XP_011537310.1:p.Gly193Val
XM_024449279.1:c.59G>T	XP_024305047.1:p.Gly20Val
NM_000020.3:c.848G>T MANE Select	NP_000011.2:p.Gly283Val
NM_001077401.2:c.848G>T	NP_001070869.1:p.Gly283Val