Canonical Allele Identifier: CA412891605

Gene: PQBP1

Linked Data

• MyVariant Identifiers: chrX:g.48760255C>G (hg19) ; chrX:g.48902978C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902978C>G , CM000685.2:g.48902978C>G	GRCh38
NC_000023.10:g.48760255C>G , CM000685.1:g.48760255C>G	GRCh37
NC_000023.9:g.48645199C>G	NCBI36
NG_015967.1:g.10061C>G
NG_015968.2:g.172G>C
NG_034300.1:g.13981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.692C>G	ENSP00000218224.4:p.Ala231Gly
ENST00000376563.6:c.692C>G	ENSP00000365747.1:p.Ala231Gly
ENST00000396763.6:c.692C>G	ENSP00000379985.1:p.Ala231Gly
ENST00000443648.6:c.692C>G	ENSP00000414861.2:p.Ala231Gly
ENST00000456306.2:c.83C>G	ENSP00000393013.2:p.Ala28Gly
ENST00000472742.6:c.*109C>G	ENSP00000509191.1:n.*109C>G
ENST00000474671.6:n.1847C>G
ENST00000477997.6:n.1641C>G
ENST00000486150.6:n.1947C>G
ENST00000692023.1:c.*1113C>G	ENSP00000509927.1:n.*1113C>G
ENST00000447146.7:c.692C>G MANE Select	ENSP00000391759.2:p.Ala231Gly
ENST00000651767.1:c.692C>G	ENSP00000498362.1:p.Ala231Gly
ENST00000218224.8:c.692C>G	ENSP00000218224.4:p.Ala231Gly
ENST00000247140.8:c.407C>G	ENSP00000247140.4:p.Ala136Gly
ENST00000376563.5:c.692C>G	ENSP00000365747.1:p.Ala231Gly
ENST00000376566.8:c.407C>G	ENSP00000365750.4:p.Ala136Gly
ENST00000396763.5:c.692C>G	ENSP00000379985.1:p.Ala231Gly
ENST00000447146.6:c.692C>G	ENSP00000391759.2:p.Ala231Gly
ENST00000456306.1:c.373C>G
ENST00000463529.4:n.1038C>G
ENST00000465859.2:n.706C>G
ENST00000470059.5:n.906C>G
ENST00000470062.5:n.664C>G
ENST00000473764.5:n.1264C>G
ENST00000474671.5:n.752C>G
ENST00000477997.5:n.773C>G
NM_001032381.1:c.692C>G	NP_001027553.1:p.Ala231Gly
NM_001032382.1:c.692C>G	NP_001027554.1:p.Ala231Gly
NM_001032383.1:c.692C>G	NP_001027555.1:p.Ala231Gly
NM_001032384.1:c.692C>G	NP_001027556.1:p.Ala231Gly
NM_001167989.1:c.689C>G	NP_001161461.1:p.Ala230Gly
NM_001167990.1:c.668C>G	NP_001161462.1:p.Ala223Gly
NM_001167992.1:c.392C>G	NP_001161464.1:p.Ala131Gly
NM_005710.2:c.692C>G	NP_005701.1:p.Ala231Gly
NM_144495.2:c.407C>G	NP_652766.1:p.Ala136Gly
XM_005272571.3:c.689C>G	XP_005272628.1:p.Ala230Gly
XM_005272572.3:c.407C>G	XP_005272629.1:p.Ala136Gly
XM_011543884.1:c.692C>G	XP_011542186.1:p.Ala231Gly
XM_005272572.4:c.407C>G	XP_005272629.1:p.Ala136Gly
XM_011543884.2:c.692C>G	XP_011542186.1:p.Ala231Gly
XM_017029207.1:c.689C>G	XP_016884696.1:p.Ala230Gly
NM_001032381.2:c.692C>G	NP_001027553.1:p.Ala231Gly
NM_001032382.2:c.692C>G MANE Select	NP_001027554.1:p.Ala231Gly
NM_001032383.2:c.692C>G	NP_001027555.1:p.Ala231Gly
NM_001167989.2:c.689C>G	NP_001161461.1:p.Ala230Gly
NM_001167990.2:c.668C>G	NP_001161462.1:p.Ala223Gly
NM_144495.3:c.407C>G	NP_652766.1:p.Ala136Gly