Canonical Allele Identifier: CA384905894

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 936241
• ClinVar RCV Id: RCV001205003
• dbSNP Id: rs1940959530
• MyVariant Identifiers: chr12:g.52314624A>G (hg19) ; chr12:g.51920840A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920840A>G , CM000674.2:g.51920840A>G	GRCh38
NC_000012.11:g.52314624A>G , CM000674.1:g.52314624A>G	GRCh37
NC_000012.10:g.50600891A>G	NCBI36
NG_009549.1:g.18423A>G , LRG_543:g.18423A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1189A>G	ENSP00000446724.2:p.Lys397Glu
ENST00000551576.6:c.1459A>G	ENSP00000455848.2:p.Lys487Glu
ENST00000388922.9:c.1459A>G MANE Select	ENSP00000373574.4:p.Lys487Glu
ENST00000388922.8:c.1459A>G	ENSP00000373574.4:p.Lys487Glu
ENST00000419526.6:c.937A>G	ENSP00000392492.2:p.Lys313Glu
ENST00000550683.5:c.1501A>G	ENSP00000447884.1:p.Lys501Glu
NM_000020.2:c.1459A>G , LRG_543t1:c.1459A>G	NP_000011.2:p.Lys487Glu
NM_001077401.1:c.1459A>G	NP_001070869.1:p.Lys487Glu
XM_005269235.2:c.1459A>G	XP_005269292.1:p.Lys487Glu
XM_011539008.1:c.1189A>G	XP_011537310.1:p.Lys397Glu
XM_024449279.1:c.670A>G	XP_024305047.1:p.Lys224Glu
NM_000020.3:c.1459A>G MANE Select	NP_000011.2:p.Lys487Glu
NM_001077401.2:c.1459A>G	NP_001070869.1:p.Lys487Glu