Canonical Allele Identifier: CA384902705

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2576420
• ClinVar RCV Id: RCV003322479
• dbSNP Id: rs1359814243
• gnomAD v2: 12-52309937-G-A
• gnomAD v3: 12-51916153-G-A
• gnomAD v4: 12-51916153-G-A
• MyVariant Identifiers: chr12:g.52309937G>A (hg19) ; chr12:g.51916153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916153G>A , CM000674.2:g.51916153G>A	GRCh38
NC_000012.11:g.52309937G>A , CM000674.1:g.52309937G>A	GRCh37
NC_000012.10:g.50596204G>A	NCBI36
NG_009549.1:g.13736G>A , LRG_543:g.13736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.896G>A	ENSP00000446724.2:p.Cys299Tyr
ENST00000551576.6:c.1166G>A	ENSP00000455848.2:p.Cys389Tyr
ENST00000552678.2:c.1166G>A	ENSP00000457394.2:p.Cys389Tyr
ENST00000388922.9:c.1166G>A MANE Select	ENSP00000373574.4:p.Cys389Tyr
ENST00000388922.8:c.1166G>A	ENSP00000373574.4:p.Cys389Tyr
ENST00000419526.6:c.644G>A	ENSP00000392492.2:p.Cys215Tyr
ENST00000547632.1:n.441G>A
ENST00000550683.5:c.1208G>A	ENSP00000447884.1:p.Cys403Tyr
ENST00000552678.1:c.171G>A
NM_000020.2:c.1166G>A , LRG_543t1:c.1166G>A	NP_000011.2:p.Cys389Tyr
NM_001077401.1:c.1166G>A	NP_001070869.1:p.Cys389Tyr
XM_005269235.2:c.1166G>A	XP_005269292.1:p.Cys389Tyr
XM_011539008.1:c.896G>A	XP_011537310.1:p.Cys299Tyr
XM_024449279.1:c.377G>A	XP_024305047.1:p.Cys126Tyr
NM_000020.3:c.1166G>A MANE Select	NP_000011.2:p.Cys389Tyr
NM_001077401.2:c.1166G>A	NP_001070869.1:p.Cys389Tyr