Canonical Allele Identifier: CA384900322

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1412933
• ClinVar RCV Id: RCV001925620
• dbSNP Id: rs2139072643
• MyVariant Identifiers: chr12:g.52309023G>A (hg19) ; chr12:g.51915239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915239G>A , CM000674.2:g.51915239G>A	GRCh38
NC_000012.11:g.52309023G>A , CM000674.1:g.52309023G>A	GRCh37
NC_000012.10:g.50595290G>A	NCBI36
NG_009549.1:g.12822G>A , LRG_543:g.12822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.517G>A	ENSP00000446724.2:p.Asp173Asn
ENST00000551576.6:c.787G>A	ENSP00000455848.2:p.Asp263Asn
ENST00000552678.2:c.787G>A	ENSP00000457394.2:p.Asp263Asn
ENST00000388922.9:c.787G>A MANE Select	ENSP00000373574.4:p.Asp263Asn
ENST00000388922.8:c.787G>A	ENSP00000373574.4:p.Asp263Asn
ENST00000419526.6:c.265G>A	ENSP00000392492.2:p.Asp89Asn
ENST00000550683.5:c.829G>A	ENSP00000447884.1:p.Asp277Asn
NM_000020.2:c.787G>A , LRG_543t1:c.787G>A	NP_000011.2:p.Asp263Asn
NM_001077401.1:c.787G>A	NP_001070869.1:p.Asp263Asn
XM_005269235.2:c.787G>A	XP_005269292.1:p.Asp263Asn
XM_011539008.1:c.517G>A	XP_011537310.1:p.Asp173Asn
XM_024449279.1:c.-3G>A	XP_024305047.1:n.-3G>A
NM_000020.3:c.787G>A MANE Select	NP_000011.2:p.Asp263Asn
NM_001077401.2:c.787G>A	NP_001070869.1:p.Asp263Asn