Canonical Allele Identifier: CA384902988

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1478836
• ClinVar RCV Id: RCV002019117 ; RCV002361341
• dbSNP Id: rs2139077046
• MyVariant Identifiers: chr12:g.52309989G>T (hg19) ; chr12:g.51916205G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916205G>T , CM000674.2:g.51916205G>T	GRCh38
NC_000012.11:g.52309989G>T , CM000674.1:g.52309989G>T	GRCh37
NC_000012.10:g.50596256G>T	NCBI36
NG_009549.1:g.13788G>T , LRG_543:g.13788G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.948G>T	ENSP00000446724.2:p.Trp316Cys
ENST00000551576.6:c.1218G>T	ENSP00000455848.2:p.Trp406Cys
ENST00000552678.2:c.1218G>T	ENSP00000457394.2:p.Trp406Cys
ENST00000388922.9:c.1218G>T MANE Select	ENSP00000373574.4:p.Trp406Cys
ENST00000388922.8:c.1218G>T	ENSP00000373574.4:p.Trp406Cys
ENST00000419526.6:c.696G>T	ENSP00000392492.2:p.Trp232Cys
ENST00000547632.1:n.493G>T
ENST00000550683.5:c.1260G>T	ENSP00000447884.1:p.Trp420Cys
ENST00000552678.1:c.223G>T
NM_000020.2:c.1218G>T , LRG_543t1:c.1218G>T	NP_000011.2:p.Trp406Cys
NM_001077401.1:c.1218G>T	NP_001070869.1:p.Trp406Cys
XM_005269235.2:c.1218G>T	XP_005269292.1:p.Trp406Cys
XM_011539008.1:c.948G>T	XP_011537310.1:p.Trp316Cys
XM_024449279.1:c.429G>T	XP_024305047.1:p.Trp143Cys
NM_000020.3:c.1218G>T MANE Select	NP_000011.2:p.Trp406Cys
NM_001077401.2:c.1218G>T	NP_001070869.1:p.Trp406Cys