Canonical Allele Identifier: CA16614168

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 411314
• ClinVar RCV Id: RCV000467491 ; RCV000488746 ; RCV001576840 ; RCV002436455
• dbSNP Id: rs1060503248
• gnomAD v2: 12-52309892-G-A
• gnomAD v3: 12-51916108-G-A
• gnomAD v4: 12-51916108-G-A
• COSMIC: COSM5841245 ; COSM5841246
• MyVariant Identifiers: chr12:g.52309892G>A (hg19) ; chr12:g.51916108G>A (hg38)
• PubMed: PMID:14684682 ; PMID:23919827 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916108G>A , CM000674.2:g.51916108G>A	GRCh38
NC_000012.11:g.52309892G>A , CM000674.1:g.52309892G>A	GRCh37
NC_000012.10:g.50596159G>A	NCBI36
NG_009549.1:g.13691G>A , LRG_543:g.13691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.851G>A	ENSP00000446724.2:p.Arg284Gln
ENST00000551576.6:c.1121G>A	ENSP00000455848.2:p.Arg374Gln
ENST00000552678.2:c.1121G>A	ENSP00000457394.2:p.Arg374Gln
ENST00000388922.9:c.1121G>A MANE Select	ENSP00000373574.4:p.Arg374Gln
ENST00000388922.8:c.1121G>A	ENSP00000373574.4:p.Arg374Gln
ENST00000419526.6:c.599G>A	ENSP00000392492.2:p.Arg200Gln
ENST00000547632.1:n.396G>A
ENST00000550683.5:c.1163G>A	ENSP00000447884.1:p.Arg388Gln
ENST00000552678.1:c.126G>A
NM_000020.2:c.1121G>A , LRG_543t1:c.1121G>A	NP_000011.2:p.Arg374Gln
NM_001077401.1:c.1121G>A	NP_001070869.1:p.Arg374Gln
XM_005269235.2:c.1121G>A	XP_005269292.1:p.Arg374Gln
XM_011539008.1:c.851G>A	XP_011537310.1:p.Arg284Gln
XM_024449279.1:c.332G>A	XP_024305047.1:p.Arg111Gln
NM_000020.3:c.1121G>A MANE Select	NP_000011.2:p.Arg374Gln
NM_001077401.2:c.1121G>A	NP_001070869.1:p.Arg374Gln