Canonical Allele Identifier: CA384900434
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426017
ClinVar RCV Id: RCV002431425 RCV003509546
dbSNP Id: rs1085307409
gnomAD v4: 12-51915270-T-C
MyVariant Identifiers: chr12:g.52309054T>C (hg19) chr12:g.51915270T>C (hg38)
PubMed: PMID:19357124 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915270T>C , CM000674.2:g.51915270T>C GRCh38
NC_000012.11:g.52309054T>C , CM000674.1:g.52309054T>C GRCh37
NC_000012.10:g.50595321T>C NCBI36
NG_009549.1:g.12853T>C , LRG_543:g.12853T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.548T>C ENSP00000446724.2:p.Leu183Pro
ENST00000551576.6:c.818T>C ENSP00000455848.2:p.Leu273Pro
ENST00000552678.2:c.818T>C ENSP00000457394.2:p.Leu273Pro
ENST00000388922.9:c.818T>C MANE Select ENSP00000373574.4:p.Leu273Pro
ENST00000388922.8:c.818T>C ENSP00000373574.4:p.Leu273Pro
ENST00000419526.6:c.296T>C ENSP00000392492.2:p.Leu99Pro
ENST00000550683.5:c.860T>C ENSP00000447884.1:p.Leu287Pro
NM_000020.2:c.818T>C , LRG_543t1:c.818T>C NP_000011.2:p.Leu273Pro
NM_001077401.1:c.818T>C NP_001070869.1:p.Leu273Pro
XM_005269235.2:c.818T>C XP_005269292.1:p.Leu273Pro
XM_011539008.1:c.548T>C XP_011537310.1:p.Leu183Pro
XM_024449279.1:c.29T>C XP_024305047.1:p.Leu10Pro
NM_000020.3:c.818T>C MANE Select NP_000011.2:p.Leu273Pro
NM_001077401.2:c.818T>C NP_001070869.1:p.Leu273Pro
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