Canonical Allele Identifier: CA384901351

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1767756
• ClinVar RCV Id: RCV002386985 ; RCV003509746
• MyVariant Identifiers: chr12:g.52309203A>G (hg19) ; chr12:g.51915419A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915419A>G , CM000674.2:g.51915419A>G	GRCh38
NC_000012.11:g.52309203A>G , CM000674.1:g.52309203A>G	GRCh37
NC_000012.10:g.50595470A>G	NCBI36
NG_009549.1:g.13002A>G , LRG_543:g.13002A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.697A>G	ENSP00000446724.2:p.Lys233Glu
ENST00000551576.6:c.967A>G	ENSP00000455848.2:p.Lys323Glu
ENST00000552678.2:c.967A>G	ENSP00000457394.2:p.Lys323Glu
ENST00000388922.9:c.967A>G MANE Select	ENSP00000373574.4:p.Lys323Glu
ENST00000388922.8:c.967A>G	ENSP00000373574.4:p.Lys323Glu
ENST00000419526.6:c.445A>G	ENSP00000392492.2:p.Lys149Glu
ENST00000550683.5:c.1009A>G	ENSP00000447884.1:p.Lys337Glu
NM_000020.2:c.967A>G , LRG_543t1:c.967A>G	NP_000011.2:p.Lys323Glu
NM_001077401.1:c.967A>G	NP_001070869.1:p.Lys323Glu
XM_005269235.2:c.967A>G	XP_005269292.1:p.Lys323Glu
XM_011539008.1:c.697A>G	XP_011537310.1:p.Lys233Glu
XM_024449279.1:c.178A>G	XP_024305047.1:p.Lys60Glu
NM_000020.3:c.967A>G MANE Select	NP_000011.2:p.Lys323Glu
NM_001077401.2:c.967A>G	NP_001070869.1:p.Lys323Glu