Canonical Allele Identifier: CA324198

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1384566
• ClinVar RCV Id: RCV001924863 ; RCV002388766 ; RCV003481162
• dbSNP Id: rs1555154144
• MyVariant Identifiers: chr12:g.52314580G>A (hg19) ; chr12:g.51920796G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920796G>A , CM000674.2:g.51920796G>A	GRCh38
NC_000012.11:g.52314580G>A , CM000674.1:g.52314580G>A	GRCh37
NC_000012.10:g.50600847G>A	NCBI36
NG_009549.1:g.18379G>A , LRG_543:g.18379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1145G>A	ENSP00000446724.2:p.Trp382Ter
ENST00000551576.6:c.1415G>A	ENSP00000455848.2:p.Trp472Ter
ENST00000388922.9:c.1415G>A MANE Select	ENSP00000373574.4:p.Trp472Ter
ENST00000388922.8:c.1415G>A	ENSP00000373574.4:p.Trp472Ter
ENST00000419526.6:c.893G>A	ENSP00000392492.2:p.Trp298Ter
ENST00000550683.5:c.1457G>A	ENSP00000447884.1:p.Trp486Ter
NM_000020.2:c.1415G>A , LRG_543t1:c.1415G>A	NP_000011.2:p.Trp472Ter
NM_001077401.1:c.1415G>A	NP_001070869.1:p.Trp472Ter
XM_005269235.2:c.1415G>A	XP_005269292.1:p.Trp472Ter
XM_011539008.1:c.1145G>A	XP_011537310.1:p.Trp382Ter
XM_024449279.1:c.626G>A	XP_024305047.1:p.Trp209Ter
NM_000020.3:c.1415G>A MANE Select	NP_000011.2:p.Trp472Ter
NM_001077401.2:c.1415G>A	NP_001070869.1:p.Trp472Ter