Canonical Allele Identifier: CA322270

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 212794
• ClinVar RCV Id: RCV000197808 ; RCV000689218 ; RCV002381659 ; RCV003993880
• dbSNP Id: rs863223406
• gnomAD v4: 12-51919116-G-A
• MyVariant Identifiers: chr12:g.52312900G>A (hg19) ; chr12:g.51919116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51919116G>A , CM000674.2:g.51919116G>A	GRCh38
NC_000012.11:g.52312900G>A , CM000674.1:g.52312900G>A	GRCh37
NC_000012.10:g.50599167G>A	NCBI36
NG_009549.1:g.16699G>A , LRG_543:g.16699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1107+1G>A	ENSP00000446724.2:n.1107+1G>A
ENST00000551576.6:c.1377+1G>A	ENSP00000455848.2:n.1377+1G>A
ENST00000552678.2:c.1378G>A	ENSP00000457394.2:p.Val460Met
ENST00000388922.9:c.1377+1G>A MANE Select	ENSP00000373574.4:n.1377+1G>A
ENST00000388922.8:c.1377+1G>A	ENSP00000373574.4:n.1377+1G>A
ENST00000419526.6:c.855+1G>A	ENSP00000392492.2:n.855+1G>A
ENST00000547632.1:n.653G>A
ENST00000550683.5:c.1419+1G>A	ENSP00000447884.1:n.1419+1G>A
ENST00000552678.1:c.383G>A
NM_000020.2:c.1377+1G>A , LRG_543t1:c.1377+1G>A	NP_000011.2:n.1377+1G>A
NM_001077401.1:c.1377+1G>A	NP_001070869.1:n.1377+1G>A
XM_005269235.2:c.1377+1G>A	XP_005269292.1:n.1377+1G>A
XM_011539008.1:c.1107+1G>A	XP_011537310.1:n.1107+1G>A
XM_024449279.1:c.588+1G>A	XP_024305047.1:n.588+1G>A
NM_000020.3:c.1377+1G>A MANE Select	NP_000011.2:n.1377+1G>A
NM_001077401.2:c.1377+1G>A	NP_001070869.1:n.1377+1G>A