Canonical Allele Identifier: CA384897959

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 951985
• ClinVar RCV Id: RCV001224004
• dbSNP Id: rs1221689111
• MyVariant Identifiers: chr12:g.52307052C>G (hg19) ; chr12:g.51913268C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913268C>G , CM000674.2:g.51913268C>G	GRCh38
NC_000012.11:g.52307052C>G , CM000674.1:g.52307052C>G	GRCh37
NC_000012.10:g.50593319C>G	NCBI36
NG_009549.1:g.10851C>G , LRG_543:g.10851C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.273C>G	ENSP00000446724.2:p.Cys91Trp
ENST00000551576.6:c.231C>G	ENSP00000455848.2:p.Cys77Trp
ENST00000552678.2:c.231C>G	ENSP00000457394.2:p.Cys77Trp
ENST00000388922.9:c.231C>G MANE Select	ENSP00000373574.4:p.Cys77Trp
ENST00000388922.8:c.231C>G	ENSP00000373574.4:p.Cys77Trp
ENST00000419526.6:c.103+733C>G	ENSP00000392492.2:n.103+733C>G
ENST00000547400.5:c.273C>G	ENSP00000446724.1:p.Cys91Trp
ENST00000550683.5:c.273C>G	ENSP00000447884.1:p.Cys91Trp
ENST00000551576.5:c.231C>G	ENSP00000455848.1:p.Cys77Trp
NM_000020.2:c.231C>G , LRG_543t1:c.231C>G	NP_000011.2:p.Cys77Trp
NM_001077401.1:c.231C>G	NP_001070869.1:p.Cys77Trp
XM_005269235.2:c.231C>G	XP_005269292.1:p.Cys77Trp
XM_011539008.1:c.273C>G	XP_011537310.1:p.Cys91Trp
NM_000020.3:c.231C>G MANE Select	NP_000011.2:p.Cys77Trp
NM_001077401.2:c.231C>G	NP_001070869.1:p.Cys77Trp