Canonical Allele Identifier: CA6572836

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 617961
• ClinVar RCV Id: RCV000755787
• dbSNP Id: rs756447582
• ExAC: 12:52307059 C / T
• gnomAD v2: 12-52307059-C-T
• gnomAD v4: 12-51913275-C-T
• MyVariant Identifiers: chr12:g.52307059C>T (hg19) ; chr12:g.51913275C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913275C>T , CM000674.2:g.51913275C>T	GRCh38
NC_000012.11:g.52307059C>T , CM000674.1:g.52307059C>T	GRCh37
NC_000012.10:g.50593326C>T	NCBI36
NG_009549.1:g.10858C>T , LRG_543:g.10858C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.280C>T	ENSP00000446724.2:p.Arg94Cys
ENST00000551576.6:c.238C>T	ENSP00000455848.2:p.Arg80Cys
ENST00000552678.2:c.238C>T	ENSP00000457394.2:p.Arg80Cys
ENST00000388922.9:c.238C>T MANE Select	ENSP00000373574.4:p.Arg80Cys
ENST00000388922.8:c.238C>T	ENSP00000373574.4:p.Arg80Cys
ENST00000419526.6:c.103+740C>T	ENSP00000392492.2:n.103+740C>T
ENST00000547400.5:c.280C>T	ENSP00000446724.1:p.Arg94Cys
ENST00000550683.5:c.280C>T	ENSP00000447884.1:p.Arg94Cys
ENST00000551576.5:c.238C>T	ENSP00000455848.1:p.Arg80Cys
NM_000020.2:c.238C>T , LRG_543t1:c.238C>T	NP_000011.2:p.Arg80Cys
NM_001077401.1:c.238C>T	NP_001070869.1:p.Arg80Cys
XM_005269235.2:c.238C>T	XP_005269292.1:p.Arg80Cys
XM_011539008.1:c.280C>T	XP_011537310.1:p.Arg94Cys
NM_000020.3:c.238C>T MANE Select	NP_000011.2:p.Arg80Cys
NM_001077401.2:c.238C>T	NP_001070869.1:p.Arg80Cys