Canonical Allele Identifier: CA119402

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 8251
• ClinVar RCV Id: RCV000008738 ; RCV000008737 ; RCV000199381 ; RCV002362571
• dbSNP Id: rs121909287
• gnomAD v4: 12-51916218-C-T
• MyVariant Identifiers: chr12:g.52310002C>T (hg19) ; chr12:g.51916218C>T (hg38)
• PubMed: PMID:11484689 ; PMID:15024723 ; PMID:18285823

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916218C>T , CM000674.2:g.51916218C>T	GRCh38
NC_000012.11:g.52310002C>T , CM000674.1:g.52310002C>T	GRCh37
NC_000012.10:g.50596269C>T	NCBI36
NG_009549.1:g.13801C>T , LRG_543:g.13801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.961C>T	ENSP00000446724.2:p.Arg321Trp
ENST00000551576.6:c.1231C>T	ENSP00000455848.2:p.Arg411Trp
ENST00000552678.2:c.1231C>T	ENSP00000457394.2:p.Arg411Trp
ENST00000388922.9:c.1231C>T MANE Select	ENSP00000373574.4:p.Arg411Trp
ENST00000388922.8:c.1231C>T	ENSP00000373574.4:p.Arg411Trp
ENST00000419526.6:c.709C>T	ENSP00000392492.2:p.Arg237Trp
ENST00000547632.1:n.506C>T
ENST00000550683.5:c.1273C>T	ENSP00000447884.1:p.Arg425Trp
ENST00000552678.1:c.236C>T
NM_000020.2:c.1231C>T , LRG_543t1:c.1231C>T	NP_000011.2:p.Arg411Trp
NM_001077401.1:c.1231C>T	NP_001070869.1:p.Arg411Trp
XM_005269235.2:c.1231C>T	XP_005269292.1:p.Arg411Trp
XM_011539008.1:c.961C>T	XP_011537310.1:p.Arg321Trp
XM_024449279.1:c.442C>T	XP_024305047.1:p.Arg148Trp
NM_000020.3:c.1231C>T MANE Select	NP_000011.2:p.Arg411Trp
NM_001077401.2:c.1231C>T	NP_001070869.1:p.Arg411Trp