Canonical Allele Identifier: CA384897562

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1948619
• ClinVar RCV Id: RCV002667875
• dbSNP Id: rs1257219446
• gnomAD v2: 12-52306934-G-A
• gnomAD v3: 12-51913150-G-A
• gnomAD v4: 12-51913150-G-A
• MyVariant Identifiers: chr12:g.52306934G>A (hg19) ; chr12:g.51913150G>A (hg38)
• ERepo: CA384897562/MONDO:0010880/135

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913150G>A , CM000674.2:g.51913150G>A	GRCh38
NC_000012.11:g.52306934G>A , CM000674.1:g.52306934G>A	GRCh37
NC_000012.10:g.50593201G>A	NCBI36
NG_009549.1:g.10733G>A , LRG_543:g.10733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.155G>A	ENSP00000446724.2:p.Ser52Asn
ENST00000551576.6:c.113G>A	ENSP00000455848.2:p.Ser38Asn
ENST00000552678.2:c.113G>A	ENSP00000457394.2:p.Ser38Asn
ENST00000388922.9:c.113G>A MANE Select	ENSP00000373574.4:p.Ser38Asn
ENST00000388922.8:c.113G>A	ENSP00000373574.4:p.Ser38Asn
ENST00000419526.6:c.103+615G>A	ENSP00000392492.2:n.103+615G>A
ENST00000547400.5:c.155G>A	ENSP00000446724.1:p.Ser52Asn
ENST00000550683.5:c.155G>A	ENSP00000447884.1:p.Ser52Asn
ENST00000551576.5:c.113G>A	ENSP00000455848.1:p.Ser38Asn
NM_000020.2:c.113G>A , LRG_543t1:c.113G>A	NP_000011.2:p.Ser38Asn
NM_001077401.1:c.113G>A	NP_001070869.1:p.Ser38Asn
XM_005269235.2:c.113G>A	XP_005269292.1:p.Ser38Asn
XM_011539008.1:c.155G>A	XP_011537310.1:p.Ser52Asn
NM_000020.3:c.113G>A MANE Select	NP_000011.2:p.Ser38Asn
NM_001077401.2:c.113G>A	NP_001070869.1:p.Ser38Asn