Canonical Allele Identifier: CA6573177

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2710032
• ClinVar RCV Id: RCV003510750
• dbSNP Id: rs777374619
• ExAC: 12:52314609 G / A
• gnomAD v2: 12-52314609-G-A
• gnomAD v3: 12-51920825-G-A
• gnomAD v4: 12-51920825-G-A
• MyVariant Identifiers: chr12:g.52314609G>A (hg19) ; chr12:g.51920825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920825G>A , CM000674.2:g.51920825G>A	GRCh38
NC_000012.11:g.52314609G>A , CM000674.1:g.52314609G>A	GRCh37
NC_000012.10:g.50600876G>A	NCBI36
NG_009549.1:g.18408G>A , LRG_543:g.18408G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1174G>A	ENSP00000446724.2:p.Ala392Thr
ENST00000551576.6:c.1444G>A	ENSP00000455848.2:p.Ala482Thr
ENST00000388922.9:c.1444G>A MANE Select	ENSP00000373574.4:p.Ala482Thr
ENST00000388922.8:c.1444G>A	ENSP00000373574.4:p.Ala482Thr
ENST00000419526.6:c.922G>A	ENSP00000392492.2:p.Ala308Thr
ENST00000550683.5:c.1486G>A	ENSP00000447884.1:p.Ala496Thr
NM_000020.2:c.1444G>A , LRG_543t1:c.1444G>A	NP_000011.2:p.Ala482Thr
NM_001077401.1:c.1444G>A	NP_001070869.1:p.Ala482Thr
XM_005269235.2:c.1444G>A	XP_005269292.1:p.Ala482Thr
XM_011539008.1:c.1174G>A	XP_011537310.1:p.Ala392Thr
XM_024449279.1:c.655G>A	XP_024305047.1:p.Ala219Thr
NM_000020.3:c.1444G>A MANE Select	NP_000011.2:p.Ala482Thr
NM_001077401.2:c.1444G>A	NP_001070869.1:p.Ala482Thr