Canonical Allele Identifier: CA384899215
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1744752

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913745C>G , CM000674.2:g.51913745C>G GRCh38
NC_000012.11:g.52307529C>G , CM000674.1:g.52307529C>G GRCh37
NC_000012.10:g.50593796C>G NCBI36
NG_009549.1:g.11328C>G , LRG_543:g.11328C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000547400.6:c.355+395C>G ENSP00000446724.2:n.355+395C>G
ENST00000551576.6:c.500C>G ENSP00000455848.2:p.Ser167Cys
ENST00000552678.2:c.500C>G ENSP00000457394.2:p.Ser167Cys
ENST00000388922.9:c.500C>G MANE Select ENSP00000373574.4:p.Ser167Cys
ENST00000388922.8:c.500C>G ENSP00000373574.4:p.Ser167Cys
ENST00000419526.6:c.104-694C>G ENSP00000392492.2:n.104-694C>G
ENST00000547400.5:c.355+395C>G ENSP00000446724.1:n.355+395C>G
ENST00000550683.5:c.542C>G ENSP00000447884.1:p.Ser181Cys
NM_000020.2:c.500C>G , LRG_543t1:c.500C>G NP_000011.2:p.Ser167Cys
NM_001077401.1:c.500C>G NP_001070869.1:p.Ser167Cys
XM_005269235.2:c.500C>G XP_005269292.1:p.Ser167Cys
XM_011539008.1:c.355+395C>G XP_011537310.1:n.355+395C>G
XM_024449279.1:c.-190C>G XP_024305047.1:n.-190C>G
NM_000020.3:c.500C>G MANE Select NP_000011.2:p.Ser167Cys
NM_001077401.2:c.500C>G NP_001070869.1:p.Ser167Cys