Canonical Allele Identifier: CA384905277
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1117G>T ENSP00000446724.2:p.Gly373Cys
ENST00000551576.6:c.1387G>T ENSP00000455848.2:p.Gly463Cys
ENST00000388922.9:c.1387G>T MANE Select ENSP00000373574.4:p.Gly463Cys
ENST00000388922.8:c.1387G>T ENSP00000373574.4:p.Gly463Cys
ENST00000419526.6:c.865G>T ENSP00000392492.2:p.Gly289Cys
ENST00000550683.5:c.1429G>T ENSP00000447884.1:p.Gly477Cys
NM_000020.2:c.1387G>T , LRG_543t1:c.1387G>T NP_000011.2:p.Gly463Cys
NM_001077401.1:c.1387G>T NP_001070869.1:p.Gly463Cys
XM_005269235.2:c.1387G>T XP_005269292.1:p.Gly463Cys
XM_011539008.1:c.1117G>T XP_011537310.1:p.Gly373Cys
XM_024449279.1:c.598G>T XP_024305047.1:p.Gly200Cys
NM_000020.3:c.1387G>T MANE Select NP_000011.2:p.Gly463Cys
NM_001077401.2:c.1387G>T NP_001070869.1:p.Gly463Cys