Canonical Allele Identifier: CA516359817

Gene: PQBP1

Linked Data

• ClinVar Variation Id: 2977880
• ClinVar RCV Id: RCV003834478
• gnomAD v4: X-48902490-C-T
• MyVariant Identifiers: chrX:g.48759767C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902490C>T , CM000685.2:g.48902490C>T	GRCh38
NC_000023.10:g.48759767C>T , CM000685.1:g.48759767C>T	GRCh37
NC_000023.9:g.48644711C>T	NCBI36
NG_015967.1:g.9573C>T
NG_015968.2:g.660G>A
NG_034300.1:g.14469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.550C>T	ENSP00000218224.4:p.Leu184=
ENST00000376563.6:c.550C>T	ENSP00000365747.1:p.Leu184=
ENST00000396763.6:c.550C>T	ENSP00000379985.1:p.Leu184=
ENST00000443648.6:c.550C>T	ENSP00000414861.2:p.Leu184=
ENST00000456306.2:c.-32-242C>T	ENSP00000393013.2:n.-32-242C>T
ENST00000472742.6:c.444+106C>T	ENSP00000509191.1:n.444+106C>T
ENST00000473764.6:n.1165C>T
ENST00000474671.6:n.1359C>T
ENST00000477997.6:n.1285C>T
ENST00000486150.6:n.1459C>T
ENST00000692023.1:c.*757C>T	ENSP00000509927.1:n.*757C>T
ENST00000447146.7:c.550C>T MANE Select	ENSP00000391759.2:p.Leu184=
ENST00000651767.1:c.550C>T	ENSP00000498362.1:p.Leu184=
ENST00000218224.8:c.550C>T	ENSP00000218224.4:p.Leu184=
ENST00000247140.8:c.293-242C>T	ENSP00000247140.4:n.293-242C>T
ENST00000376563.5:c.550C>T	ENSP00000365747.1:p.Leu184=
ENST00000376566.8:c.293-242C>T	ENSP00000365750.4:n.293-242C>T
ENST00000396763.5:c.550C>T	ENSP00000379985.1:p.Leu184=
ENST00000443648.5:c.550C>T	ENSP00000414861.1:p.Leu184=
ENST00000447146.6:c.550C>T	ENSP00000391759.2:p.Leu184=
ENST00000456306.1:c.259-242C>T
ENST00000463529.4:n.550C>T
ENST00000465859.2:n.564C>T
ENST00000470059.5:n.550C>T
ENST00000470062.5:n.549+106C>T
ENST00000472742.5:n.613+106C>T
ENST00000473764.5:n.1122C>T
ENST00000474671.5:n.610C>T
ENST00000477997.5:n.631C>T
NM_001032381.1:c.550C>T	NP_001027553.1:p.Leu184=
NM_001032382.1:c.550C>T	NP_001027554.1:p.Leu184=
NM_001032383.1:c.550C>T	NP_001027555.1:p.Leu184=
NM_001032384.1:c.550C>T	NP_001027556.1:p.Leu184=
NM_001167989.1:c.550C>T	NP_001161461.1:p.Leu184=
NM_001167990.1:c.526C>T	NP_001161462.1:p.Leu176=
NM_001167992.1:c.250C>T	NP_001161464.1:p.Leu84=
NM_005710.2:c.550C>T	NP_005701.1:p.Leu184=
NM_144495.2:c.293-242C>T	NP_652766.1:n.293-242C>T
XM_005272571.3:c.550C>T	XP_005272628.1:p.Leu184=
XM_005272572.3:c.293-242C>T	XP_005272629.1:n.293-242C>T
XM_011543884.1:c.550C>T	XP_011542186.1:p.Leu184=
XM_005272572.4:c.293-242C>T	XP_005272629.1:n.293-242C>T
XM_011543884.2:c.550C>T	XP_011542186.1:p.Leu184=
XM_017029207.1:c.550C>T	XP_016884696.1:p.Leu184=
NM_001032381.2:c.550C>T	NP_001027553.1:p.Leu184=
NM_001032382.2:c.550C>T MANE Select	NP_001027554.1:p.Leu184=
NM_001032383.2:c.550C>T	NP_001027555.1:p.Leu184=
NM_001167989.2:c.550C>T	NP_001161461.1:p.Leu184=
NM_001167990.2:c.526C>T	NP_001161462.1:p.Leu176=
NM_144495.3:c.293-242C>T	NP_652766.1:n.293-242C>T