Canonical Allele Identifier: CA384897896

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1330268
• ClinVar RCV Id: RCV001801300 ; RCV002422861
• dbSNP Id: rs2139065261
• COSMIC: COSM6403887 ; COSM6403888
• MyVariant Identifiers: chr12:g.52307026T>C (hg19) ; chr12:g.51913242T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913242T>C , CM000674.2:g.51913242T>C	GRCh38
NC_000012.11:g.52307026T>C , CM000674.1:g.52307026T>C	GRCh37
NC_000012.10:g.50593293T>C	NCBI36
NG_009549.1:g.10825T>C , LRG_543:g.10825T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.247T>C	ENSP00000446724.2:p.Cys83Arg
ENST00000551576.6:c.205T>C	ENSP00000455848.2:p.Cys69Arg
ENST00000552678.2:c.205T>C	ENSP00000457394.2:p.Cys69Arg
ENST00000388922.9:c.205T>C MANE Select	ENSP00000373574.4:p.Cys69Arg
ENST00000388922.8:c.205T>C	ENSP00000373574.4:p.Cys69Arg
ENST00000419526.6:c.103+707T>C	ENSP00000392492.2:n.103+707T>C
ENST00000547400.5:c.247T>C	ENSP00000446724.1:p.Cys83Arg
ENST00000550683.5:c.247T>C	ENSP00000447884.1:p.Cys83Arg
ENST00000551576.5:c.205T>C	ENSP00000455848.1:p.Cys69Arg
NM_000020.2:c.205T>C , LRG_543t1:c.205T>C	NP_000011.2:p.Cys69Arg
NM_001077401.1:c.205T>C	NP_001070869.1:p.Cys69Arg
XM_005269235.2:c.205T>C	XP_005269292.1:p.Cys69Arg
XM_011539008.1:c.247T>C	XP_011537310.1:p.Cys83Arg
NM_000020.3:c.205T>C MANE Select	NP_000011.2:p.Cys69Arg
NM_001077401.2:c.205T>C	NP_001070869.1:p.Cys69Arg