Canonical Allele Identifier: CA384900597

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1066572
• ClinVar RCV Id: RCV001377597
• dbSNP Id: rs1940804969
• MyVariant Identifiers: chr12:g.52309099T>C (hg19) ; chr12:g.51915315T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915315T>C , CM000674.2:g.51915315T>C	GRCh38
NC_000012.11:g.52309099T>C , CM000674.1:g.52309099T>C	GRCh37
NC_000012.10:g.50595366T>C	NCBI36
NG_009549.1:g.12898T>C , LRG_543:g.12898T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.593T>C	ENSP00000446724.2:p.Phe198Ser
ENST00000551576.6:c.863T>C	ENSP00000455848.2:p.Phe288Ser
ENST00000552678.2:c.863T>C	ENSP00000457394.2:p.Phe288Ser
ENST00000388922.9:c.863T>C MANE Select	ENSP00000373574.4:p.Phe288Ser
ENST00000388922.8:c.863T>C	ENSP00000373574.4:p.Phe288Ser
ENST00000419526.6:c.341T>C	ENSP00000392492.2:p.Phe114Ser
ENST00000550683.5:c.905T>C	ENSP00000447884.1:p.Phe302Ser
NM_000020.2:c.863T>C , LRG_543t1:c.863T>C	NP_000011.2:p.Phe288Ser
NM_001077401.1:c.863T>C	NP_001070869.1:p.Phe288Ser
XM_005269235.2:c.863T>C	XP_005269292.1:p.Phe288Ser
XM_011539008.1:c.593T>C	XP_011537310.1:p.Phe198Ser
XM_024449279.1:c.74T>C	XP_024305047.1:p.Phe25Ser
NM_000020.3:c.863T>C MANE Select	NP_000011.2:p.Phe288Ser
NM_001077401.2:c.863T>C	NP_001070869.1:p.Phe288Ser