Canonical Allele Identifier: CA384900328
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426016
ClinVar RCV Id: RCV000488626
dbSNP Id: rs1085307408

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915240A>G , CM000674.2:g.51915240A>G GRCh38
NC_000012.11:g.52309024A>G , CM000674.1:g.52309024A>G GRCh37
NC_000012.10:g.50595291A>G NCBI36
NG_009549.1:g.12823A>G , LRG_543:g.12823A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.518A>G ENSP00000446724.2:p.Asp173Gly
ENST00000551576.6:c.788A>G ENSP00000455848.2:p.Asp263Gly
ENST00000552678.2:c.788A>G ENSP00000457394.2:p.Asp263Gly
ENST00000388922.9:c.788A>G MANE Select ENSP00000373574.4:p.Asp263Gly
ENST00000388922.8:c.788A>G ENSP00000373574.4:p.Asp263Gly
ENST00000419526.6:c.266A>G ENSP00000392492.2:p.Asp89Gly
ENST00000550683.5:c.830A>G ENSP00000447884.1:p.Asp277Gly
NM_000020.2:c.788A>G , LRG_543t1:c.788A>G NP_000011.2:p.Asp263Gly
NM_001077401.1:c.788A>G NP_001070869.1:p.Asp263Gly
XM_005269235.2:c.788A>G XP_005269292.1:p.Asp263Gly
XM_011539008.1:c.518A>G XP_011537310.1:p.Asp173Gly
XM_024449279.1:c.-2A>G XP_024305047.1:n.-2A>G
NM_000020.3:c.788A>G MANE Select NP_000011.2:p.Asp263Gly
NM_001077401.2:c.788A>G NP_001070869.1:p.Asp263Gly