Canonical Allele Identifier: CA16613756
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411302
ClinVar RCV Id: RCV000471693

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920758G>A , CM000674.2:g.51920758G>A GRCh38
NC_000012.11:g.52314542G>A , CM000674.1:g.52314542G>A GRCh37
NC_000012.10:g.50600809G>A NCBI36
NG_009549.1:g.18341G>A , LRG_543:g.18341G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1378-1G>A MANE Select ENSP00000373574.4:n.1378-1G>A
ENST00000388922.8:c.1378-1G>A ENSP00000373574.4:n.1378-1G>A
ENST00000419526.6:c.856-1G>A ENSP00000392492.2:n.856-1G>A
ENST00000550683.5:c.1420-1G>A ENSP00000447884.1:n.1420-1G>A
NM_000020.2:c.1378-1G>A , LRG_543t1:c.1378-1G>A NP_000011.2:n.1378-1G>A
NM_001077401.1:c.1378-1G>A NP_001070869.1:n.1378-1G>A
XM_005269235.2:c.1378-1G>A XP_005269292.1:n.1378-1G>A
XM_011539008.1:c.1108-1G>A XP_011537310.1:n.1108-1G>A
XM_024449279.1:c.589-1G>A XP_024305047.1:n.589-1G>A
NM_000020.3:c.1378-1G>A MANE Select NP_000011.2:n.1378-1G>A
NM_001077401.2:c.1378-1G>A NP_001070869.1:n.1378-1G>A