Canonical Allele Identifier: CA384905800
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426037
ClinVar RCV Id: RCV000488804 RCV001003755
dbSNP Id: rs121909288
MyVariant Identifiers: chr12:g.52314615C>G (hg19) chr12:g.51920831C>G (hg38)
PubMed: PMID:24753439 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920831C>G , CM000674.2:g.51920831C>G GRCh38
NC_000012.11:g.52314615C>G , CM000674.1:g.52314615C>G GRCh37
NC_000012.10:g.50600882C>G NCBI36
NG_009549.1:g.18414C>G , LRG_543:g.18414C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1180C>G ENSP00000446724.2:p.Arg394Gly
ENST00000551576.6:c.1450C>G ENSP00000455848.2:p.Arg484Gly
ENST00000388922.9:c.1450C>G MANE Select ENSP00000373574.4:p.Arg484Gly
ENST00000388922.8:c.1450C>G ENSP00000373574.4:p.Arg484Gly
ENST00000419526.6:c.928C>G ENSP00000392492.2:p.Arg310Gly
ENST00000550683.5:c.1492C>G ENSP00000447884.1:p.Arg498Gly
NM_000020.2:c.1450C>G , LRG_543t1:c.1450C>G NP_000011.2:p.Arg484Gly
NM_001077401.1:c.1450C>G NP_001070869.1:p.Arg484Gly
XM_005269235.2:c.1450C>G XP_005269292.1:p.Arg484Gly
XM_011539008.1:c.1180C>G XP_011537310.1:p.Arg394Gly
XM_024449279.1:c.661C>G XP_024305047.1:p.Arg221Gly
NM_000020.3:c.1450C>G MANE Select NP_000011.2:p.Arg484Gly
NM_001077401.2:c.1450C>G NP_001070869.1:p.Arg484Gly
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