Canonical Allele Identifier: CA6573171

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1125879
• ClinVar RCV Id: RCV002396073
• dbSNP Id: rs760773605
• ExAC: 12:52314570 C / A
• gnomAD v2: 12-52314570-C-A
• gnomAD v3: 12-51920786-C-A
• gnomAD v4: 12-51920786-C-A
• MyVariant Identifiers: chr12:g.52314570C>A (hg19) ; chr12:g.51920786C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920786C>A , CM000674.2:g.51920786C>A	GRCh38
NC_000012.11:g.52314570C>A , CM000674.1:g.52314570C>A	GRCh37
NC_000012.10:g.50600837C>A	NCBI36
NG_009549.1:g.18369C>A , LRG_543:g.18369C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1135C>A	ENSP00000446724.2:p.Arg379=
ENST00000551576.6:c.1405C>A	ENSP00000455848.2:p.Arg469=
ENST00000388922.9:c.1405C>A MANE Select	ENSP00000373574.4:p.Arg469=
ENST00000388922.8:c.1405C>A	ENSP00000373574.4:p.Arg469=
ENST00000419526.6:c.883C>A	ENSP00000392492.2:p.Arg295=
ENST00000550683.5:c.1447C>A	ENSP00000447884.1:p.Arg483=
NM_000020.2:c.1405C>A , LRG_543t1:c.1405C>A	NP_000011.2:p.Arg469=
NM_001077401.1:c.1405C>A	NP_001070869.1:p.Arg469=
XM_005269235.2:c.1405C>A	XP_005269292.1:p.Arg469=
XM_011539008.1:c.1135C>A	XP_011537310.1:p.Arg379=
XM_024449279.1:c.616C>A	XP_024305047.1:p.Arg206=
NM_000020.3:c.1405C>A MANE Select	NP_000011.2:p.Arg469=
NM_001077401.2:c.1405C>A	NP_001070869.1:p.Arg469=