Canonical Allele Identifier: CA384900576

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 935245
• ClinVar RCV Id: RCV001203796
• dbSNP Id: rs542810348
• MyVariant Identifiers: chr12:g.52309094C>A (hg19) ; chr12:g.51915310C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915310C>A , CM000674.2:g.51915310C>A	GRCh38
NC_000012.11:g.52309094C>A , CM000674.1:g.52309094C>A	GRCh37
NC_000012.10:g.50595361C>A	NCBI36
NG_009549.1:g.12893C>A , LRG_543:g.12893C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.588C>A	ENSP00000446724.2:p.Tyr196Ter
ENST00000551576.6:c.858C>A	ENSP00000455848.2:p.Tyr286Ter
ENST00000552678.2:c.858C>A	ENSP00000457394.2:p.Tyr286Ter
ENST00000388922.9:c.858C>A MANE Select	ENSP00000373574.4:p.Tyr286Ter
ENST00000388922.8:c.858C>A	ENSP00000373574.4:p.Tyr286Ter
ENST00000419526.6:c.336C>A	ENSP00000392492.2:p.Tyr112Ter
ENST00000550683.5:c.900C>A	ENSP00000447884.1:p.Tyr300Ter
NM_000020.2:c.858C>A , LRG_543t1:c.858C>A	NP_000011.2:p.Tyr286Ter
NM_001077401.1:c.858C>A	NP_001070869.1:p.Tyr286Ter
XM_005269235.2:c.858C>A	XP_005269292.1:p.Tyr286Ter
XM_011539008.1:c.588C>A	XP_011537310.1:p.Tyr196Ter
XM_024449279.1:c.69C>A	XP_024305047.1:p.Tyr23Ter
NM_000020.3:c.858C>A MANE Select	NP_000011.2:p.Tyr286Ter
NM_001077401.2:c.858C>A	NP_001070869.1:p.Tyr286Ter