Canonical Allele Identifier: CA384902497
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429940
dbSNP Id: rs1131691686

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51916122G>A , CM000674.2:g.51916122G>A GRCh38
NC_000012.11:g.52309906G>A , CM000674.1:g.52309906G>A GRCh37
NC_000012.10:g.50596173G>A NCBI36
NG_009549.1:g.13705G>A , LRG_543:g.13705G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.865G>A ENSP00000446724.2:p.Glu289Lys
ENST00000551576.6:c.1135G>A ENSP00000455848.2:p.Glu379Lys
ENST00000552678.2:c.1135G>A ENSP00000457394.2:p.Glu379Lys
ENST00000388922.9:c.1135G>A MANE Select ENSP00000373574.4:p.Glu379Lys
ENST00000388922.8:c.1135G>A ENSP00000373574.4:p.Glu379Lys
ENST00000419526.6:c.613G>A ENSP00000392492.2:p.Glu205Lys
ENST00000547632.1:n.410G>A
ENST00000550683.5:c.1177G>A ENSP00000447884.1:p.Glu393Lys
ENST00000552678.1:c.140G>A
NM_000020.2:c.1135G>A , LRG_543t1:c.1135G>A NP_000011.2:p.Glu379Lys
NM_001077401.1:c.1135G>A NP_001070869.1:p.Glu379Lys
XM_005269235.2:c.1135G>A XP_005269292.1:p.Glu379Lys
XM_011539008.1:c.865G>A XP_011537310.1:p.Glu289Lys
XM_024449279.1:c.346G>A XP_024305047.1:p.Glu116Lys
NM_000020.3:c.1135G>A MANE Select NP_000011.2:p.Glu379Lys
NM_001077401.2:c.1135G>A NP_001070869.1:p.Glu379Lys