Canonical Allele Identifier: CA236367781

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1773055
• ClinVar RCV Id: RCV002394711
• dbSNP Id: rs113700354
• MyVariant Identifiers: chr12:g.52314621A>G (hg19) ; chr12:g.51920837A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920837A>G , CM000674.2:g.51920837A>G	GRCh38
NC_000012.11:g.52314621A>G , CM000674.1:g.52314621A>G	GRCh37
NC_000012.10:g.50600888A>G	NCBI36
NG_009549.1:g.18420A>G , LRG_543:g.18420A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1186A>G	ENSP00000446724.2:p.Lys396Glu
ENST00000551576.6:c.1456A>G	ENSP00000455848.2:p.Lys486Glu
ENST00000388922.9:c.1456A>G MANE Select	ENSP00000373574.4:p.Lys486Glu
ENST00000388922.8:c.1456A>G	ENSP00000373574.4:p.Lys486Glu
ENST00000419526.6:c.934A>G	ENSP00000392492.2:p.Lys312Glu
ENST00000550683.5:c.1498A>G	ENSP00000447884.1:p.Lys500Glu
NM_000020.2:c.1456A>G , LRG_543t1:c.1456A>G	NP_000011.2:p.Lys486Glu
NM_001077401.1:c.1456A>G	NP_001070869.1:p.Lys486Glu
XM_005269235.2:c.1456A>G	XP_005269292.1:p.Lys486Glu
XM_011539008.1:c.1186A>G	XP_011537310.1:p.Lys396Glu
XM_024449279.1:c.667A>G	XP_024305047.1:p.Lys223Glu
NM_000020.3:c.1456A>G MANE Select	NP_000011.2:p.Lys486Glu
NM_001077401.2:c.1456A>G	NP_001070869.1:p.Lys486Glu