Canonical Allele Identifier: CA2036267051
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913220G= , CM000674.2:g.51913220G= GRCh38
NC_000012.11:g.52307004G= , CM000674.1:g.52307004G= GRCh37
NC_000012.10:g.50593271G= NCBI36
NG_009549.1:g.10803G= , LRG_543:g.10803G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.225G= ENSP00000446724.2:p.Arg75=
ENST00000551576.6:c.183G= ENSP00000455848.2:p.Arg61=
ENST00000552678.2:c.183G= ENSP00000457394.2:p.Arg61=
ENST00000388922.9:c.183G= MANE Select ENSP00000373574.4:p.Arg61=
ENST00000388922.8:c.183G= ENSP00000373574.4:p.Arg61=
ENST00000419526.6:c.103+685G= ENSP00000392492.2:n.103+685G=
ENST00000547400.5:c.225G= ENSP00000446724.1:p.Arg75=
ENST00000550683.5:c.225G= ENSP00000447884.1:p.Arg75=
ENST00000551576.5:c.183G= ENSP00000455848.1:p.Arg61=
NM_000020.2:c.183G= , LRG_543t1:c.183G= NP_000011.2:p.Arg61=
NM_001077401.1:c.183G= NP_001070869.1:p.Arg61=
XM_005269235.2:c.183G= XP_005269292.1:p.Arg61=
XM_011539008.1:c.225G= XP_011537310.1:p.Arg75=
NM_000020.3:c.183G= MANE Select NP_000011.2:p.Arg61=
NM_001077401.2:c.183G= NP_001070869.1:p.Arg61=