Canonical Allele Identifier: CA236362541

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2037700
• ClinVar RCV Id: RCV002885968
• dbSNP Id: rs537306079
• gnomAD v4: 12-51913721-A-G
• MyVariant Identifiers: chr12:g.52307505A>G (hg19) ; chr12:g.51913721A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913721A>G , CM000674.2:g.51913721A>G	GRCh38
NC_000012.11:g.52307505A>G , CM000674.1:g.52307505A>G	GRCh37
NC_000012.10:g.50593772A>G	NCBI36
NG_009549.1:g.11304A>G , LRG_543:g.11304A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+371A>G	ENSP00000446724.2:n.355+371A>G
ENST00000551576.6:c.476A>G	ENSP00000455848.2:p.Glu159Gly
ENST00000552678.2:c.476A>G	ENSP00000457394.2:p.Glu159Gly
ENST00000388922.9:c.476A>G MANE Select	ENSP00000373574.4:p.Glu159Gly
ENST00000388922.8:c.476A>G	ENSP00000373574.4:p.Glu159Gly
ENST00000419526.6:c.104-718A>G	ENSP00000392492.2:n.104-718A>G
ENST00000547400.5:c.355+371A>G	ENSP00000446724.1:n.355+371A>G
ENST00000550683.5:c.518A>G	ENSP00000447884.1:p.Glu173Gly
NM_000020.2:c.476A>G , LRG_543t1:c.476A>G	NP_000011.2:p.Glu159Gly
NM_001077401.1:c.476A>G	NP_001070869.1:p.Glu159Gly
XM_005269235.2:c.476A>G	XP_005269292.1:p.Glu159Gly
XM_011539008.1:c.355+371A>G	XP_011537310.1:n.355+371A>G
XM_024449279.1:c.-214A>G	XP_024305047.1:n.-214A>G
NM_000020.3:c.476A>G MANE Select	NP_000011.2:p.Glu159Gly
NM_001077401.2:c.476A>G	NP_001070869.1:p.Glu159Gly