Canonical Allele Identifier: CA384897894
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913240G>A , CM000674.2:g.51913240G>A GRCh38
NC_000012.11:g.52307024G>A , CM000674.1:g.52307024G>A GRCh37
NC_000012.10:g.50593291G>A NCBI36
NG_009549.1:g.10823G>A , LRG_543:g.10823G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.203G>A MANE Select ENSP00000373574.4:p.Gly68Asp
ENST00000388922.8:c.203G>A ENSP00000373574.4:p.Gly68Asp
ENST00000419526.6:c.103+705G>A ENSP00000392492.2:p.=
ENST00000547400.5:c.245G>A ENSP00000446724.1:p.Gly82Asp
ENST00000550683.5:c.245G>A ENSP00000447884.1:p.Gly82Asp
ENST00000551576.5:c.203G>A ENSP00000455848.1:p.Gly68Asp
NM_000020.2:c.203G>A , LRG_543t1:c.203G>A NP_000011.2:p.Gly68Asp
NM_001077401.1:c.203G>A NP_001070869.1:p.Gly68Asp
XM_005269235.2:c.203G>A XP_005269292.1:p.Gly68Asp
XM_011539008.1:c.245G>A XP_011537310.1:p.Gly82Asp
NM_000020.3:c.203G>A MANE Select NP_000011.2:p.Gly68Asp
NM_001077401.2:c.203G>A NP_001070869.1:p.Gly68Asp