Canonical Allele Identifier: CA384900623

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1075285
• ClinVar RCV Id: RCV001388840 ; RCV002377578
• dbSNP Id: rs1057256890
• MyVariant Identifiers: chr12:g.52309107A>T (hg19) ; chr12:g.51915323A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915323A>T , CM000674.2:g.51915323A>T	GRCh38
NC_000012.11:g.52309107A>T , CM000674.1:g.52309107A>T	GRCh37
NC_000012.10:g.50595374A>T	NCBI36
NG_009549.1:g.12906A>T , LRG_543:g.12906A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.601A>T	ENSP00000446724.2:p.Arg201Ter
ENST00000551576.6:c.871A>T	ENSP00000455848.2:p.Arg291Ter
ENST00000552678.2:c.871A>T	ENSP00000457394.2:p.Arg291Ter
ENST00000388922.9:c.871A>T MANE Select	ENSP00000373574.4:p.Arg291Ter
ENST00000388922.8:c.871A>T	ENSP00000373574.4:p.Arg291Ter
ENST00000419526.6:c.349A>T	ENSP00000392492.2:p.Arg117Ter
ENST00000550683.5:c.913A>T	ENSP00000447884.1:p.Arg305Ter
NM_000020.2:c.871A>T , LRG_543t1:c.871A>T	NP_000011.2:p.Arg291Ter
NM_001077401.1:c.871A>T	NP_001070869.1:p.Arg291Ter
XM_005269235.2:c.871A>T	XP_005269292.1:p.Arg291Ter
XM_011539008.1:c.601A>T	XP_011537310.1:p.Arg201Ter
XM_024449279.1:c.82A>T	XP_024305047.1:p.Arg28Ter
NM_000020.3:c.871A>T MANE Select	NP_000011.2:p.Arg291Ter
NM_001077401.2:c.871A>T	NP_001070869.1:p.Arg291Ter