Canonical Allele Identifier: CA119404
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8252
dbSNP Id: rs121909288

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920831C>T , CM000674.2:g.51920831C>T GRCh38
NC_000012.11:g.52314615C>T , CM000674.1:g.52314615C>T GRCh37
NC_000012.10:g.50600882C>T NCBI36
NG_009549.1:g.18414C>T , LRG_543:g.18414C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1450C>T MANE Select ENSP00000373574.4:p.Arg484Trp
ENST00000388922.8:c.1450C>T ENSP00000373574.4:p.Arg484Trp
ENST00000419526.6:c.928C>T ENSP00000392492.2:p.Arg310Trp
ENST00000550683.5:c.1492C>T ENSP00000447884.1:p.Arg498Trp
NM_000020.2:c.1450C>T , LRG_543t1:c.1450C>T NP_000011.2:p.Arg484Trp
NM_001077401.1:c.1450C>T NP_001070869.1:p.Arg484Trp
XM_005269235.2:c.1450C>T XP_005269292.1:p.Arg484Trp
XM_011539008.1:c.1180C>T XP_011537310.1:p.Arg394Trp
XM_024449279.1:c.661C>T XP_024305047.1:p.Arg221Trp
NM_000020.3:c.1450C>T MANE Select NP_000011.2:p.Arg484Trp
NM_001077401.2:c.1450C>T NP_001070869.1:p.Arg484Trp