Canonical Allele Identifier: CA384905812
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1512139
ClinVar RCV Id: RCV002022873

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1451G>C MANE Select ENSP00000373574.4:p.Arg484Pro
ENST00000388922.8:c.1451G>C ENSP00000373574.4:p.Arg484Pro
ENST00000419526.6:c.929G>C ENSP00000392492.2:p.Arg310Pro
ENST00000550683.5:c.1493G>C ENSP00000447884.1:p.Arg498Pro
NM_000020.2:c.1451G>C , LRG_543t1:c.1451G>C NP_000011.2:p.Arg484Pro
NM_001077401.1:c.1451G>C NP_001070869.1:p.Arg484Pro
XM_005269235.2:c.1451G>C XP_005269292.1:p.Arg484Pro
XM_011539008.1:c.1181G>C XP_011537310.1:p.Arg394Pro
XM_024449279.1:c.662G>C XP_024305047.1:p.Arg221Pro
NM_000020.3:c.1451G>C MANE Select NP_000011.2:p.Arg484Pro
NM_001077401.2:c.1451G>C NP_001070869.1:p.Arg484Pro