Canonical Allele Identifier: CA384897515

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1226848374
• gnomAD v2: 12-52306923-C-G
• MyVariant Identifiers: chr12:g.52306923C>G (hg19) ; chr12:g.51913139C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913139C>G , CM000674.2:g.51913139C>G	GRCh38
NC_000012.11:g.52306923C>G , CM000674.1:g.52306923C>G	GRCh37
NC_000012.10:g.50593190C>G	NCBI36
NG_009549.1:g.10722C>G , LRG_543:g.10722C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.144C>G	ENSP00000446724.2:p.Cys48Trp
ENST00000551576.6:c.102C>G	ENSP00000455848.2:p.Cys34Trp
ENST00000552678.2:c.102C>G	ENSP00000457394.2:p.Cys34Trp
ENST00000388922.9:c.102C>G MANE Select	ENSP00000373574.4:p.Cys34Trp
ENST00000388922.8:c.102C>G	ENSP00000373574.4:p.Cys34Trp
ENST00000419526.6:c.103+604C>G	ENSP00000392492.2:n.103+604C>G
ENST00000547400.5:c.144C>G	ENSP00000446724.1:p.Cys48Trp
ENST00000550683.5:c.144C>G	ENSP00000447884.1:p.Cys48Trp
ENST00000551576.5:c.102C>G	ENSP00000455848.1:p.Cys34Trp
NM_000020.2:c.102C>G , LRG_543t1:c.102C>G	NP_000011.2:p.Cys34Trp
NM_001077401.1:c.102C>G	NP_001070869.1:p.Cys34Trp
XM_005269235.2:c.102C>G	XP_005269292.1:p.Cys34Trp
XM_011539008.1:c.144C>G	XP_011537310.1:p.Cys48Trp
NM_000020.3:c.102C>G MANE Select	NP_000011.2:p.Cys34Trp
NM_001077401.2:c.102C>G	NP_001070869.1:p.Cys34Trp