Canonical Allele Identifier: CA384905893

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 982453
• ClinVar RCV Id: RCV001262032
• dbSNP Id: rs1940959530
• MyVariant Identifiers: chr12:g.52314624A>C (hg19) ; chr12:g.51920840A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920840A>C , CM000674.2:g.51920840A>C	GRCh38
NC_000012.11:g.52314624A>C , CM000674.1:g.52314624A>C	GRCh37
NC_000012.10:g.50600891A>C	NCBI36
NG_009549.1:g.18423A>C , LRG_543:g.18423A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1189A>C	ENSP00000446724.2:p.Lys397Gln
ENST00000551576.6:c.1459A>C	ENSP00000455848.2:p.Lys487Gln
ENST00000388922.9:c.1459A>C MANE Select	ENSP00000373574.4:p.Lys487Gln
ENST00000388922.8:c.1459A>C	ENSP00000373574.4:p.Lys487Gln
ENST00000419526.6:c.937A>C	ENSP00000392492.2:p.Lys313Gln
ENST00000550683.5:c.1501A>C	ENSP00000447884.1:p.Lys501Gln
NM_000020.2:c.1459A>C , LRG_543t1:c.1459A>C	NP_000011.2:p.Lys487Gln
NM_001077401.1:c.1459A>C	NP_001070869.1:p.Lys487Gln
XM_005269235.2:c.1459A>C	XP_005269292.1:p.Lys487Gln
XM_011539008.1:c.1189A>C	XP_011537310.1:p.Lys397Gln
XM_024449279.1:c.670A>C	XP_024305047.1:p.Lys224Gln
NM_000020.3:c.1459A>C MANE Select	NP_000011.2:p.Lys487Gln
NM_001077401.2:c.1459A>C	NP_001070869.1:p.Lys487Gln