Canonical Allele Identifier: CA384899827
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426014
ClinVar RCV Id: RCV000488786
dbSNP Id: rs1085307407
MyVariant Identifiers: chr12:g.52307834A>G (hg19) chr12:g.51914050A>G (hg38)
PubMed: PMID:20056902 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51914050A>G , CM000674.2:g.51914050A>G GRCh38
NC_000012.11:g.52307834A>G , CM000674.1:g.52307834A>G GRCh37
NC_000012.10:g.50594101A>G NCBI36
NG_009549.1:g.11633A>G , LRG_543:g.11633A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.356-389A>G ENSP00000446724.2:n.356-389A>G
ENST00000551576.6:c.602A>G ENSP00000455848.2:p.Gln201Arg
ENST00000552678.2:c.602A>G ENSP00000457394.2:p.Gln201Arg
ENST00000388922.9:c.602A>G MANE Select ENSP00000373574.4:p.Gln201Arg
ENST00000388922.8:c.602A>G ENSP00000373574.4:p.Gln201Arg
ENST00000419526.6:c.104-389A>G ENSP00000392492.2:n.104-389A>G
ENST00000547400.5:c.356-389A>G ENSP00000446724.1:n.356-389A>G
ENST00000550683.5:c.644A>G ENSP00000447884.1:p.Gln215Arg
NM_000020.2:c.602A>G , LRG_543t1:c.602A>G NP_000011.2:p.Gln201Arg
NM_001077401.1:c.602A>G NP_001070869.1:p.Gln201Arg
XM_005269235.2:c.602A>G XP_005269292.1:p.Gln201Arg
XM_011539008.1:c.356-389A>G XP_011537310.1:n.356-389A>G
XM_024449279.1:c.-165+280A>G XP_024305047.1:n.-165+280A>G
NM_000020.3:c.602A>G MANE Select NP_000011.2:p.Gln201Arg
NM_001077401.2:c.602A>G NP_001070869.1:p.Gln201Arg
Search 100 bp 5'
Search 100 bp 3'