Canonical Allele Identifier: CA16042853
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372722
dbSNP Id: rs1057517944

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920816C>T , CM000674.2:g.51920816C>T GRCh38
NC_000012.11:g.52314600C>T , CM000674.1:g.52314600C>T GRCh37
NC_000012.10:g.50600867C>T NCBI36
NG_009549.1:g.18399C>T , LRG_543:g.18399C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1435C>T MANE Select ENSP00000373574.4:p.Arg479Ter
ENST00000388922.8:c.1435C>T ENSP00000373574.4:p.Arg479Ter
ENST00000419526.6:c.913C>T ENSP00000392492.2:p.Arg305Ter
ENST00000550683.5:c.1477C>T ENSP00000447884.1:p.Arg493Ter
NM_000020.2:c.1435C>T , LRG_543t1:c.1435C>T NP_000011.2:p.Arg479Ter
NM_001077401.1:c.1435C>T NP_001070869.1:p.Arg479Ter
XM_005269235.2:c.1435C>T XP_005269292.1:p.Arg479Ter
XM_011539008.1:c.1165C>T XP_011537310.1:p.Arg389Ter
XM_024449279.1:c.646C>T XP_024305047.1:p.Arg216Ter
NM_000020.3:c.1435C>T MANE Select NP_000011.2:p.Arg479Ter
NM_001077401.2:c.1435C>T NP_001070869.1:p.Arg479Ter