Canonical Allele Identifier: CA384905255
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920763T>G , CM000674.2:g.51920763T>G GRCh38
NC_000012.11:g.52314547T>G , CM000674.1:g.52314547T>G GRCh37
NC_000012.10:g.50600814T>G NCBI36
NG_009549.1:g.18346T>G , LRG_543:g.18346T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1382T>G MANE Select ENSP00000373574.4:p.Leu461Arg
ENST00000388922.8:c.1382T>G ENSP00000373574.4:p.Leu461Arg
ENST00000419526.6:c.860T>G ENSP00000392492.2:p.Leu287Arg
ENST00000550683.5:c.1424T>G ENSP00000447884.1:p.Leu475Arg
NM_000020.2:c.1382T>G , LRG_543t1:c.1382T>G NP_000011.2:p.Leu461Arg
NM_001077401.1:c.1382T>G NP_001070869.1:p.Leu461Arg
XM_005269235.2:c.1382T>G XP_005269292.1:p.Leu461Arg
XM_011539008.1:c.1112T>G XP_011537310.1:p.Leu371Arg
XM_024449279.1:c.593T>G XP_024305047.1:p.Leu198Arg
NM_000020.3:c.1382T>G MANE Select NP_000011.2:p.Leu461Arg
NM_001077401.2:c.1382T>G NP_001070869.1:p.Leu461Arg