Canonical Allele Identifier: CA16614169

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916204G>A , CM000674.2:g.51916204G>A	GRCh38
NC_000012.11:g.52309988G>A , CM000674.1:g.52309988G>A	GRCh37
NC_000012.10:g.50596255G>A	NCBI36
NG_009549.1:g.13787G>A , LRG_543:g.13787G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000020.3:c.1217G>A MANE Select	NP_000011.2:p.Trp406Ter
ENST00000388922.9:c.1217G>A MANE Select	ENSP00000373574.4:p.Trp406Ter
NM_000020.2:c.1217G>A , LRG_543t1:c.1217G>A	NP_000011.2:p.Trp406Ter
NM_001077401.1:c.1217G>A	NP_001070869.1:p.Trp406Ter
NM_001077401.2:c.1217G>A	NP_001070869.1:p.Trp406Ter
ENST00000388922.8:c.1217G>A	ENSP00000373574.4:p.Trp406Ter
ENST00000419526.6:c.695G>A	ENSP00000392492.2:p.Trp232Ter
ENST00000547400.6:c.947G>A	ENSP00000446724.2:p.Trp316Ter
ENST00000547632.1:n.492G>A
ENST00000550683.5:c.1259G>A	ENSP00000447884.1:p.Trp420Ter
ENST00000551576.6:c.1217G>A	ENSP00000455848.2:p.Trp406Ter
ENST00000552678.1:c.222G>A
ENST00000552678.2:c.1217G>A	ENSP00000457394.2:p.Trp406Ter
XM_005269235.2:c.1217G>A	XP_005269292.1:p.Trp406Ter
XM_011539008.1:c.947G>A	XP_011537310.1:p.Trp316Ter
XM_024449279.1:c.428G>A	XP_024305047.1:p.Trp143Ter