Canonical Allele Identifier: CA384905275
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920768G>C , CM000674.2:g.51920768G>C GRCh38
NC_000012.11:g.52314552G>C , CM000674.1:g.52314552G>C GRCh37
NC_000012.10:g.50600819G>C NCBI36
NG_009549.1:g.18351G>C , LRG_543:g.18351G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1117G>C ENSP00000446724.2:p.Gly373Arg
ENST00000551576.6:c.1387G>C ENSP00000455848.2:p.Gly463Arg
ENST00000388922.9:c.1387G>C MANE Select ENSP00000373574.4:p.Gly463Arg
ENST00000388922.8:c.1387G>C ENSP00000373574.4:p.Gly463Arg
ENST00000419526.6:c.865G>C ENSP00000392492.2:p.Gly289Arg
ENST00000550683.5:c.1429G>C ENSP00000447884.1:p.Gly477Arg
NM_000020.2:c.1387G>C , LRG_543t1:c.1387G>C NP_000011.2:p.Gly463Arg
NM_001077401.1:c.1387G>C NP_001070869.1:p.Gly463Arg
XM_005269235.2:c.1387G>C XP_005269292.1:p.Gly463Arg
XM_011539008.1:c.1117G>C XP_011537310.1:p.Gly373Arg
XM_024449279.1:c.598G>C XP_024305047.1:p.Gly200Arg
NM_000020.3:c.1387G>C MANE Select NP_000011.2:p.Gly463Arg
NM_001077401.2:c.1387G>C NP_001070869.1:p.Gly463Arg