Canonical Allele Identifier: CA323134
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212796
dbSNP Id: rs863223408

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920832G>A , CM000674.2:g.51920832G>A GRCh38
NC_000012.11:g.52314616G>A , CM000674.1:g.52314616G>A GRCh37
NC_000012.10:g.50600883G>A NCBI36
NG_009549.1:g.18415G>A , LRG_543:g.18415G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1451G>A MANE Select ENSP00000373574.4:p.Arg484Gln
ENST00000388922.8:c.1451G>A ENSP00000373574.4:p.Arg484Gln
ENST00000419526.6:c.929G>A ENSP00000392492.2:p.Arg310Gln
ENST00000550683.5:c.1493G>A ENSP00000447884.1:p.Arg498Gln
NM_000020.2:c.1451G>A , LRG_543t1:c.1451G>A NP_000011.2:p.Arg484Gln
NM_001077401.1:c.1451G>A NP_001070869.1:p.Arg484Gln
XM_005269235.2:c.1451G>A XP_005269292.1:p.Arg484Gln
XM_011539008.1:c.1181G>A XP_011537310.1:p.Arg394Gln
XM_024449279.1:c.662G>A XP_024305047.1:p.Arg221Gln
NM_000020.3:c.1451G>A MANE Select NP_000011.2:p.Arg484Gln
NM_001077401.2:c.1451G>A NP_001070869.1:p.Arg484Gln