Canonical Allele Identifier: CA384897534

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1066979
• ClinVar RCV Id: RCV001378120
• dbSNP Id: rs2139064443
• MyVariant Identifiers: chr12:g.52306927T>C (hg19) ; chr12:g.51913143T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913143T>C , CM000674.2:g.51913143T>C	GRCh38
NC_000012.11:g.52306927T>C , CM000674.1:g.52306927T>C	GRCh37
NC_000012.10:g.50593194T>C	NCBI36
NG_009549.1:g.10726T>C , LRG_543:g.10726T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.148T>C	ENSP00000446724.2:p.Cys50Arg
ENST00000551576.6:c.106T>C	ENSP00000455848.2:p.Cys36Arg
ENST00000552678.2:c.106T>C	ENSP00000457394.2:p.Cys36Arg
ENST00000388922.9:c.106T>C MANE Select	ENSP00000373574.4:p.Cys36Arg
ENST00000388922.8:c.106T>C	ENSP00000373574.4:p.Cys36Arg
ENST00000419526.6:c.103+608T>C	ENSP00000392492.2:n.103+608T>C
ENST00000547400.5:c.148T>C	ENSP00000446724.1:p.Cys50Arg
ENST00000550683.5:c.148T>C	ENSP00000447884.1:p.Cys50Arg
ENST00000551576.5:c.106T>C	ENSP00000455848.1:p.Cys36Arg
NM_000020.2:c.106T>C , LRG_543t1:c.106T>C	NP_000011.2:p.Cys36Arg
NM_001077401.1:c.106T>C	NP_001070869.1:p.Cys36Arg
XM_005269235.2:c.106T>C	XP_005269292.1:p.Cys36Arg
XM_011539008.1:c.148T>C	XP_011537310.1:p.Cys50Arg
NM_000020.3:c.106T>C MANE Select	NP_000011.2:p.Cys36Arg
NM_001077401.2:c.106T>C	NP_001070869.1:p.Cys36Arg