Canonical Allele Identifier: CA10153257

Gene: UPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.24513378G>A , CM000684.2:g.24513378G>A	GRCh38
NC_000022.10:g.24909346G>A , CM000684.1:g.24909346G>A	GRCh37
NC_000022.9:g.23239346G>A	NCBI36
NG_012858.1:g.23096G>A
NG_012858.2:g.23096G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016327.3:c.514G>A MANE Select	NP_057411.1:p.Glu172Lys
ENST00000326010.10:c.514G>A MANE Select	ENSP00000324343.5:p.Glu172Lys
NM_016327.2:c.514G>A	NP_057411.1:p.Glu172Lys
ENST00000326010.9:c.514G>A	ENSP00000324343.5:p.Glu172Lys
ENST00000415388.5:c.*213G>A	ENSP00000400684.1:n.*213G>A
XM_011530222.1:c.595G>A	XP_011528524.1:p.Glu199Lys
XM_011530222.2:c.595G>A	XP_011528524.1:p.Glu199Lys
XM_011530223.1:c.595G>A	XP_011528525.1:p.Glu199Lys
XM_011530223.2:c.595G>A	XP_011528525.1:p.Glu199Lys
XM_011530224.1:c.595G>A	XP_011528526.1:p.Glu199Lys
XM_011530224.2:c.595G>A	XP_011528526.1:p.Glu199Lys
XM_011530225.1:c.148G>A	XP_011528527.1:p.Glu50Lys
XM_011530225.2:c.148G>A	XP_011528527.1:p.Glu50Lys
XM_017028825.1:c.595G>A	XP_016884314.1:p.Glu199Lys
XM_017028826.1:c.595G>A	XP_016884315.1:p.Glu199Lys
XM_017028827.2:c.595G>A	XP_016884316.1:p.Glu199Lys
XM_017028828.1:c.595G>A	XP_016884317.1:p.Glu199Lys
XR_001755249.1:n.939G>A
XR_001755250.1:n.939G>A
XR_937867.1:n.1532G>A
XR_937867.2:n.939G>A