Canonical Allele Identifier: CA384901479

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 464773
• ClinVar RCV Id: RCV000538925
• dbSNP Id: rs1166311240
• MyVariant Identifiers: chr12:g.52309228T>C (hg19) ; chr12:g.51915444T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915444T>C , CM000674.2:g.51915444T>C	GRCh38
NC_000012.11:g.52309228T>C , CM000674.1:g.52309228T>C	GRCh37
NC_000012.10:g.50595495T>C	NCBI36
NG_009549.1:g.13027T>C , LRG_543:g.13027T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.722T>C	ENSP00000446724.2:p.Phe241Ser
ENST00000551576.6:c.992T>C	ENSP00000455848.2:p.Phe331Ser
ENST00000552678.2:c.992T>C	ENSP00000457394.2:p.Phe331Ser
ENST00000388922.9:c.992T>C MANE Select	ENSP00000373574.4:p.Phe331Ser
ENST00000388922.8:c.992T>C	ENSP00000373574.4:p.Phe331Ser
ENST00000419526.6:c.470T>C	ENSP00000392492.2:p.Phe157Ser
ENST00000550683.5:c.1034T>C	ENSP00000447884.1:p.Phe345Ser
NM_000020.2:c.992T>C , LRG_543t1:c.992T>C	NP_000011.2:p.Phe331Ser
NM_001077401.1:c.992T>C	NP_001070869.1:p.Phe331Ser
XM_005269235.2:c.992T>C	XP_005269292.1:p.Phe331Ser
XM_011539008.1:c.722T>C	XP_011537310.1:p.Phe241Ser
XM_024449279.1:c.203T>C	XP_024305047.1:p.Phe68Ser
NM_000020.3:c.992T>C MANE Select	NP_000011.2:p.Phe331Ser
NM_001077401.2:c.992T>C	NP_001070869.1:p.Phe331Ser