Canonical Allele Identifier: CA2036236244
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915485T= , CM000674.2:g.51915485T= GRCh38
NC_000012.11:g.52309269T= , CM000674.1:g.52309269T= GRCh37
NC_000012.10:g.50595536T= NCBI36
NG_009549.1:g.13068T= , LRG_543:g.13068T=

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.763T= ENSP00000446724.2:p.Cys255=
ENST00000551576.6:c.1033T= ENSP00000455848.2:p.Cys345=
ENST00000552678.2:c.1033T= ENSP00000457394.2:p.Cys345=
ENST00000388922.9:c.1033T= MANE Select ENSP00000373574.4:p.Cys345=
ENST00000388922.8:c.1033T= ENSP00000373574.4:p.Cys345=
ENST00000419526.6:c.511T= ENSP00000392492.2:p.Cys171=
ENST00000550683.5:c.1075T= ENSP00000447884.1:p.Cys359=
ENST00000552678.1:c.38T=
NM_000020.2:c.1033T= , LRG_543t1:c.1033T= NP_000011.2:p.Cys345=
NM_001077401.1:c.1033T= NP_001070869.1:p.Cys345=
XM_005269235.2:c.1033T= XP_005269292.1:p.Cys345=
XM_011539008.1:c.763T= XP_011537310.1:p.Cys255=
XM_024449279.1:c.244T= XP_024305047.1:p.Cys82=
NM_000020.3:c.1033T= MANE Select NP_000011.2:p.Cys345=
NM_001077401.2:c.1033T= NP_001070869.1:p.Cys345=