Canonical Allele Identifier: CA2036239619
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51918970A= , CM000674.2:g.51918970A= GRCh38
NC_000012.11:g.52312754A= , CM000674.1:g.52312754A= GRCh37
NC_000012.10:g.50599021A= NCBI36
NG_009549.1:g.16553A= , LRG_543:g.16553A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.977-15A= ENSP00000446724.2:n.977-15A=
ENST00000551576.6:c.1247-15A= ENSP00000455848.2:n.1247-15A=
ENST00000552678.2:c.1247-15A= ENSP00000457394.2:n.1247-15A=
ENST00000388922.9:c.1247-15A= MANE Select ENSP00000373574.4:n.1247-15A=
ENST00000388922.8:c.1247-15A= ENSP00000373574.4:n.1247-15A=
ENST00000419526.6:c.725-15A= ENSP00000392492.2:n.725-15A=
ENST00000547632.1:n.522-15A=
ENST00000550683.5:c.1289-15A= ENSP00000447884.1:n.1289-15A=
ENST00000552678.1:c.252-15A=
NM_000020.2:c.1247-15A= , LRG_543t1:c.1247-15A= NP_000011.2:n.1247-15A=
NM_001077401.1:c.1247-15A= NP_001070869.1:n.1247-15A=
XM_005269235.2:c.1247-15A= XP_005269292.1:n.1247-15A=
XM_011539008.1:c.977-15A= XP_011537310.1:n.977-15A=
XM_024449279.1:c.458-15A= XP_024305047.1:n.458-15A=
NM_000020.3:c.1247-15A= MANE Select NP_000011.2:n.1247-15A=
NM_001077401.2:c.1247-15A= NP_001070869.1:n.1247-15A=