Canonical Allele Identifier: CA2036266924
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913142G= , CM000674.2:g.51913142G= GRCh38
NC_000012.11:g.52306926G= , CM000674.1:g.52306926G= GRCh37
NC_000012.10:g.50593193G= NCBI36
NG_009549.1:g.10725G= , LRG_543:g.10725G=

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.147G= ENSP00000446724.2:p.Thr49=
ENST00000551576.6:c.105G= ENSP00000455848.2:p.Thr35=
ENST00000552678.2:c.105G= ENSP00000457394.2:p.Thr35=
ENST00000388922.9:c.105G= MANE Select ENSP00000373574.4:p.Thr35=
ENST00000388922.8:c.105G= ENSP00000373574.4:p.Thr35=
ENST00000419526.6:c.103+607G= ENSP00000392492.2:n.103+607G=
ENST00000547400.5:c.147G= ENSP00000446724.1:p.Thr49=
ENST00000550683.5:c.147G= ENSP00000447884.1:p.Thr49=
ENST00000551576.5:c.105G= ENSP00000455848.1:p.Thr35=
NM_000020.2:c.105G= , LRG_543t1:c.105G= NP_000011.2:p.Thr35=
NM_001077401.1:c.105G= NP_001070869.1:p.Thr35=
XM_005269235.2:c.105G= XP_005269292.1:p.Thr35=
XM_011539008.1:c.147G= XP_011537310.1:p.Thr49=
NM_000020.3:c.105G= MANE Select NP_000011.2:p.Thr35=
NM_001077401.2:c.105G= NP_001070869.1:p.Thr35=