Canonical Allele Identifier: CA322926
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212799
dbSNP Id: rs138048445

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51914495G>A , CM000674.2:g.51914495G>A GRCh38
NC_000012.11:g.52308279G>A , CM000674.1:g.52308279G>A GRCh37
NC_000012.10:g.50594546G>A NCBI36
NG_009549.1:g.12078G>A , LRG_543:g.12078G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.682G>A MANE Select ENSP00000373574.4:p.Val228Ile
ENST00000388922.8:c.682G>A ENSP00000373574.4:p.Val228Ile
ENST00000419526.6:c.160G>A ENSP00000392492.2:p.Val54Ile
ENST00000547400.5:c.412G>A ENSP00000446724.1:p.Val138Ile
ENST00000550683.5:c.724G>A ENSP00000447884.1:p.Val242Ile
NM_000020.2:c.682G>A , LRG_543t1:c.682G>A NP_000011.2:p.Val228Ile
NM_001077401.1:c.682G>A NP_001070869.1:p.Val228Ile
XM_005269235.2:c.682G>A XP_005269292.1:p.Val228Ile
XM_011539008.1:c.412G>A XP_011537310.1:p.Val138Ile
XM_024449279.1:c.-108G>A XP_024305047.1:n.-108G>A
NM_000020.3:c.682G>A MANE Select NP_000011.2:p.Val228Ile
NM_001077401.2:c.682G>A NP_001070869.1:p.Val228Ile