Canonical Allele Identifier: CA384897602

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1070651
• ClinVar RCV Id: RCV001382876
• dbSNP Id: rs2139064528
• MyVariant Identifiers: chr12:g.52306942T>G (hg19) ; chr12:g.51913158T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913158T>G , CM000674.2:g.51913158T>G	GRCh38
NC_000012.11:g.52306942T>G , CM000674.1:g.52306942T>G	GRCh37
NC_000012.10:g.50593209T>G	NCBI36
NG_009549.1:g.10741T>G , LRG_543:g.10741T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.163T>G	ENSP00000446724.2:p.Cys55Gly
ENST00000551576.6:c.121T>G	ENSP00000455848.2:p.Cys41Gly
ENST00000552678.2:c.121T>G	ENSP00000457394.2:p.Cys41Gly
ENST00000388922.9:c.121T>G MANE Select	ENSP00000373574.4:p.Cys41Gly
ENST00000388922.8:c.121T>G	ENSP00000373574.4:p.Cys41Gly
ENST00000419526.6:c.103+623T>G	ENSP00000392492.2:n.103+623T>G
ENST00000547400.5:c.163T>G	ENSP00000446724.1:p.Cys55Gly
ENST00000550683.5:c.163T>G	ENSP00000447884.1:p.Cys55Gly
ENST00000551576.5:c.121T>G	ENSP00000455848.1:p.Cys41Gly
NM_000020.2:c.121T>G , LRG_543t1:c.121T>G	NP_000011.2:p.Cys41Gly
NM_001077401.1:c.121T>G	NP_001070869.1:p.Cys41Gly
XM_005269235.2:c.121T>G	XP_005269292.1:p.Cys41Gly
XM_011539008.1:c.163T>G	XP_011537310.1:p.Cys55Gly
NM_000020.3:c.121T>G MANE Select	NP_000011.2:p.Cys41Gly
NM_001077401.2:c.121T>G	NP_001070869.1:p.Cys41Gly