Canonical Allele Identifier: CA412891243

Gene: PQBP1

Linked Data

• gnomAD v4: X-48902771-C-A
• MyVariant Identifiers: chrX:g.48760048C>A (hg19) ; chrX:g.48902771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902771C>A , CM000685.2:g.48902771C>A	GRCh38
NC_000023.10:g.48760048C>A , CM000685.1:g.48760048C>A	GRCh37
NC_000023.9:g.48644992C>A	NCBI36
NG_015967.1:g.9854C>A
NG_015968.2:g.379G>T
NG_034300.1:g.14188G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.617C>A	ENSP00000218224.4:p.Pro206His
ENST00000376563.6:c.617C>A	ENSP00000365747.1:p.Pro206His
ENST00000396763.6:c.617C>A	ENSP00000379985.1:p.Pro206His
ENST00000443648.6:c.617C>A	ENSP00000414861.2:p.Pro206His
ENST00000456306.2:c.8C>A	ENSP00000393013.2:p.Pro3His
ENST00000472742.6:c.*34C>A	ENSP00000509191.1:n.*34C>A
ENST00000473764.6:n.1446C>A
ENST00000474671.6:n.1640C>A
ENST00000477997.6:n.1566C>A
ENST00000486150.6:n.1740C>A
ENST00000692023.1:c.*1038C>A	ENSP00000509927.1:n.*1038C>A
ENST00000447146.7:c.617C>A MANE Select	ENSP00000391759.2:p.Pro206His
ENST00000651767.1:c.617C>A	ENSP00000498362.1:p.Pro206His
ENST00000218224.8:c.617C>A	ENSP00000218224.4:p.Pro206His
ENST00000247140.8:c.332C>A	ENSP00000247140.4:p.Pro111His
ENST00000376563.5:c.617C>A	ENSP00000365747.1:p.Pro206His
ENST00000376566.8:c.332C>A	ENSP00000365750.4:p.Pro111His
ENST00000396763.5:c.617C>A	ENSP00000379985.1:p.Pro206His
ENST00000443648.5:c.617C>A	ENSP00000414861.1:p.Pro206His
ENST00000447146.6:c.617C>A	ENSP00000391759.2:p.Pro206His
ENST00000456306.1:c.298C>A
ENST00000463529.4:n.831C>A
ENST00000465859.2:n.631C>A
ENST00000470059.5:n.831C>A
ENST00000470062.5:n.589C>A
ENST00000472742.5:n.653C>A
ENST00000473764.5:n.1189C>A
ENST00000474671.5:n.677C>A
ENST00000477997.5:n.698C>A
NM_001032381.1:c.617C>A	NP_001027553.1:p.Pro206His
NM_001032382.1:c.617C>A	NP_001027554.1:p.Pro206His
NM_001032383.1:c.617C>A	NP_001027555.1:p.Pro206His
NM_001032384.1:c.617C>A	NP_001027556.1:p.Pro206His
NM_001167989.1:c.614C>A	NP_001161461.1:p.Pro205His
NM_001167990.1:c.593C>A	NP_001161462.1:p.Pro198His
NM_001167992.1:c.317C>A	NP_001161464.1:p.Pro106His
NM_005710.2:c.617C>A	NP_005701.1:p.Pro206His
NM_144495.2:c.332C>A	NP_652766.1:p.Pro111His
XM_005272571.3:c.614C>A	XP_005272628.1:p.Pro205His
XM_005272572.3:c.332C>A	XP_005272629.1:p.Pro111His
XM_011543884.1:c.617C>A	XP_011542186.1:p.Pro206His
XM_005272572.4:c.332C>A	XP_005272629.1:p.Pro111His
XM_011543884.2:c.617C>A	XP_011542186.1:p.Pro206His
XM_017029207.1:c.614C>A	XP_016884696.1:p.Pro205His
NM_001032381.2:c.617C>A	NP_001027553.1:p.Pro206His
NM_001032382.2:c.617C>A MANE Select	NP_001027554.1:p.Pro206His
NM_001032383.2:c.617C>A	NP_001027555.1:p.Pro206His
NM_001167989.2:c.614C>A	NP_001161461.1:p.Pro205His
NM_001167990.2:c.593C>A	NP_001161462.1:p.Pro198His
NM_144495.3:c.332C>A	NP_652766.1:p.Pro111His