Canonical Allele Identifier: CA384900434

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 426017
• ClinVar RCV Id: RCV000488783 ; RCV002431425 ; RCV003509546 ; RCV004017643
• 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

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