Canonical Allele Identifier: CA384899215

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1744752
• ClinVar RCV Id: RCV002343094 ; RCV003096562
• MyVariant Identifiers: chr12:g.52307529C>G (hg19) ; chr12:g.51913745C>G (hg38)
• ERepo: CA384899215/MONDO:0010880/135

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913745C>G , CM000674.2:g.51913745C>G	GRCh38
NC_000012.11:g.52307529C>G , CM000674.1:g.52307529C>G	GRCh37
NC_000012.10:g.50593796C>G	NCBI36
NG_009549.1:g.11328C>G , LRG_543:g.11328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+395C>G	ENSP00000446724.2:n.355+395C>G
ENST00000551576.6:c.500C>G	ENSP00000455848.2:p.Ser167Cys
ENST00000552678.2:c.500C>G	ENSP00000457394.2:p.Ser167Cys
ENST00000388922.9:c.500C>G MANE Select	ENSP00000373574.4:p.Ser167Cys
ENST00000388922.8:c.500C>G	ENSP00000373574.4:p.Ser167Cys
ENST00000419526.6:c.104-694C>G	ENSP00000392492.2:n.104-694C>G
ENST00000547400.5:c.355+395C>G	ENSP00000446724.1:n.355+395C>G
ENST00000550683.5:c.542C>G	ENSP00000447884.1:p.Ser181Cys
NM_000020.2:c.500C>G , LRG_543t1:c.500C>G	NP_000011.2:p.Ser167Cys
NM_001077401.1:c.500C>G	NP_001070869.1:p.Ser167Cys
XM_005269235.2:c.500C>G	XP_005269292.1:p.Ser167Cys
XM_011539008.1:c.355+395C>G	XP_011537310.1:n.355+395C>G
XM_024449279.1:c.-190C>G	XP_024305047.1:n.-190C>G
NM_000020.3:c.500C>G MANE Select	NP_000011.2:p.Ser167Cys
NM_001077401.2:c.500C>G	NP_001070869.1:p.Ser167Cys