Canonical Allele Identifier: CA384899920

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 950456
• ClinVar RCV Id: RCV001222170
• dbSNP Id: rs1940766819
• MyVariant Identifiers: chr12:g.52307853T>A (hg19) ; chr12:g.51914069T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914069T>A , CM000674.2:g.51914069T>A	GRCh38
NC_000012.11:g.52307853T>A , CM000674.1:g.52307853T>A	GRCh37
NC_000012.10:g.50594120T>A	NCBI36
NG_009549.1:g.11652T>A , LRG_543:g.11652T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-370T>A	ENSP00000446724.2:n.356-370T>A
ENST00000551576.6:c.621T>A	ENSP00000455848.2:p.Cys207Ter
ENST00000552678.2:c.621T>A	ENSP00000457394.2:p.Cys207Ter
ENST00000388922.9:c.621T>A MANE Select	ENSP00000373574.4:p.Cys207Ter
ENST00000388922.8:c.621T>A	ENSP00000373574.4:p.Cys207Ter
ENST00000419526.6:c.104-370T>A	ENSP00000392492.2:n.104-370T>A
ENST00000547400.5:c.356-370T>A	ENSP00000446724.1:n.356-370T>A
ENST00000550683.5:c.663T>A	ENSP00000447884.1:p.Cys221Ter
NM_000020.2:c.621T>A , LRG_543t1:c.621T>A	NP_000011.2:p.Cys207Ter
NM_001077401.1:c.621T>A	NP_001070869.1:p.Cys207Ter
XM_005269235.2:c.621T>A	XP_005269292.1:p.Cys207Ter
XM_011539008.1:c.356-370T>A	XP_011537310.1:n.356-370T>A
XM_024449279.1:c.-165+299T>A	XP_024305047.1:n.-165+299T>A
NM_000020.3:c.621T>A MANE Select	NP_000011.2:p.Cys207Ter
NM_001077401.2:c.621T>A	NP_001070869.1:p.Cys207Ter