Canonical Allele Identifier: CA116654

Gene: UPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.24500256C>A , CM000684.2:g.24500256C>A	GRCh38
NC_000022.10:g.24896224C>A , CM000684.1:g.24896224C>A	GRCh37
NC_000022.9:g.23226224C>A	NCBI36
NG_012858.1:g.9974C>A
NG_012858.2:g.9974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326010.10:c.254C>A MANE Select	ENSP00000324343.5:p.Ala85Glu
ENST00000326010.9:c.254C>A	ENSP00000324343.5:p.Ala85Glu
ENST00000382760.2:c.254C>A	ENSP00000372208.2:p.Ala85Glu
ENST00000415388.5:c.105-1870C>A	ENSP00000400684.1:n.105-1870C>A
NM_016327.2:c.254C>A	NP_057411.1:p.Ala85Glu
XM_011530222.1:c.254C>A	XP_011528524.1:p.Ala85Glu
XM_011530223.1:c.254C>A	XP_011528525.1:p.Ala85Glu
XM_011530224.1:c.254C>A	XP_011528526.1:p.Ala85Glu
XM_011530225.1:c.-189C>A	XP_011528527.1:n.-189C>A
XR_937867.1:n.1191C>A
XM_011530222.2:c.254C>A	XP_011528524.1:p.Ala85Glu
XM_011530223.2:c.254C>A	XP_011528525.1:p.Ala85Glu
XM_011530224.2:c.254C>A	XP_011528526.1:p.Ala85Glu
XM_011530225.2:c.-189C>A	XP_011528527.1:n.-189C>A
XM_017028825.1:c.254C>A	XP_016884314.1:p.Ala85Glu
XM_017028826.1:c.254C>A	XP_016884315.1:p.Ala85Glu
XM_017028827.2:c.254C>A	XP_016884316.1:p.Ala85Glu
XM_017028828.1:c.254C>A	XP_016884317.1:p.Ala85Glu
XR_001755249.1:n.598C>A
XR_001755250.1:n.598C>A
XR_937867.2:n.598C>A
NM_016327.3:c.254C>A MANE Select	NP_057411.1:p.Ala85Glu