Canonical Allele Identifier: CA384900158

Gene: ACVRL1

Linked Data

• COSMIC: COSM4593865 ; COSM4593866
• MyVariant Identifiers: chr12:g.52308321G>A (hg19) ; chr12:g.51914537G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914537G>A , CM000674.2:g.51914537G>A	GRCh38
NC_000012.11:g.52308321G>A , CM000674.1:g.52308321G>A	GRCh37
NC_000012.10:g.50594588G>A	NCBI36
NG_009549.1:g.12120G>A , LRG_543:g.12120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.454G>A	ENSP00000446724.2:p.Glu152Lys
ENST00000551576.6:c.724G>A	ENSP00000455848.2:p.Glu242Lys
ENST00000552678.2:c.724G>A	ENSP00000457394.2:p.Glu242Lys
ENST00000388922.9:c.724G>A MANE Select	ENSP00000373574.4:p.Glu242Lys
ENST00000388922.8:c.724G>A	ENSP00000373574.4:p.Glu242Lys
ENST00000419526.6:c.202G>A	ENSP00000392492.2:p.Glu68Lys
ENST00000547400.5:c.454G>A	ENSP00000446724.1:p.Glu152Lys
ENST00000550683.5:c.766G>A	ENSP00000447884.1:p.Glu256Lys
NM_000020.2:c.724G>A , LRG_543t1:c.724G>A	NP_000011.2:p.Glu242Lys
NM_001077401.1:c.724G>A	NP_001070869.1:p.Glu242Lys
XM_005269235.2:c.724G>A	XP_005269292.1:p.Glu242Lys
XM_011539008.1:c.454G>A	XP_011537310.1:p.Glu152Lys
XM_024449279.1:c.-66G>A	XP_024305047.1:n.-66G>A
NM_000020.3:c.724G>A MANE Select	NP_000011.2:p.Glu242Lys
NM_001077401.2:c.724G>A	NP_001070869.1:p.Glu242Lys