Canonical Allele Identifier: CA384901512

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1345165
• ClinVar RCV Id: RCV002034974
• dbSNP Id: rs2139073944
• MyVariant Identifiers: chr12:g.52309233A>T (hg19) ; chr12:g.51915449A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915449A>T , CM000674.2:g.51915449A>T	GRCh38
NC_000012.11:g.52309233A>T , CM000674.1:g.52309233A>T	GRCh37
NC_000012.10:g.50595500A>T	NCBI36
NG_009549.1:g.13032A>T , LRG_543:g.13032A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.727A>T	ENSP00000446724.2:p.Ser243Cys
ENST00000551576.6:c.997A>T	ENSP00000455848.2:p.Ser333Cys
ENST00000552678.2:c.997A>T	ENSP00000457394.2:p.Ser333Cys
ENST00000388922.9:c.997A>T MANE Select	ENSP00000373574.4:p.Ser333Cys
ENST00000388922.8:c.997A>T	ENSP00000373574.4:p.Ser333Cys
ENST00000419526.6:c.475A>T	ENSP00000392492.2:p.Ser159Cys
ENST00000550683.5:c.1039A>T	ENSP00000447884.1:p.Ser347Cys
ENST00000552678.1:c.2A>T
NM_000020.2:c.997A>T , LRG_543t1:c.997A>T	NP_000011.2:p.Ser333Cys
NM_001077401.1:c.997A>T	NP_001070869.1:p.Ser333Cys
XM_005269235.2:c.997A>T	XP_005269292.1:p.Ser333Cys
XM_011539008.1:c.727A>T	XP_011537310.1:p.Ser243Cys
XM_024449279.1:c.208A>T	XP_024305047.1:p.Ser70Cys
NM_000020.3:c.997A>T MANE Select	NP_000011.2:p.Ser333Cys
NM_001077401.2:c.997A>T	NP_001070869.1:p.Ser333Cys