Canonical Allele Identifier: CA412891759

Gene: PQBP1

Linked Data

• gnomAD v4: X-48903014-G-T
• MyVariant Identifiers: chrX:g.48760291G>T (hg19) ; chrX:g.48903014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48903014G>T , CM000685.2:g.48903014G>T	GRCh38
NC_000023.10:g.48760291G>T , CM000685.1:g.48760291G>T	GRCh37
NC_000023.9:g.48645235G>T	NCBI36
NG_015967.1:g.10097G>T
NG_015968.2:g.136C>A
NG_034300.1:g.13945C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.728G>T	ENSP00000218224.4:p.Arg243Leu
ENST00000376563.6:c.728G>T	ENSP00000365747.1:p.Arg243Leu
ENST00000396763.6:c.728G>T	ENSP00000379985.1:p.Arg243Leu
ENST00000443648.6:c.728G>T	ENSP00000414861.2:p.Arg243Leu
ENST00000456306.2:c.119G>T	ENSP00000393013.2:p.Arg40Leu
ENST00000472742.6:c.*145G>T	ENSP00000509191.1:n.*145G>T
ENST00000474671.6:n.1883G>T
ENST00000477997.6:n.1677G>T
ENST00000486150.6:n.1983G>T
ENST00000692023.1:c.*1149G>T	ENSP00000509927.1:n.*1149G>T
ENST00000447146.7:c.728G>T MANE Select	ENSP00000391759.2:p.Arg243Leu
ENST00000651767.1:c.728G>T	ENSP00000498362.1:p.Arg243Leu
ENST00000218224.8:c.728G>T	ENSP00000218224.4:p.Arg243Leu
ENST00000247140.8:c.443G>T	ENSP00000247140.4:p.Arg148Leu
ENST00000376563.5:c.728G>T	ENSP00000365747.1:p.Arg243Leu
ENST00000376566.8:c.443G>T	ENSP00000365750.4:p.Arg148Leu
ENST00000396763.5:c.728G>T	ENSP00000379985.1:p.Arg243Leu
ENST00000447146.6:c.728G>T	ENSP00000391759.2:p.Arg243Leu
ENST00000456306.1:c.409G>T
ENST00000463529.4:n.1074G>T
ENST00000465859.2:n.742G>T
ENST00000470059.5:n.942G>T
ENST00000470062.5:n.700G>T
ENST00000473764.5:n.1300G>T
ENST00000474671.5:n.788G>T
ENST00000477997.5:n.809G>T
NM_001032381.1:c.728G>T	NP_001027553.1:p.Arg243Leu
NM_001032382.1:c.728G>T	NP_001027554.1:p.Arg243Leu
NM_001032383.1:c.728G>T	NP_001027555.1:p.Arg243Leu
NM_001032384.1:c.728G>T	NP_001027556.1:p.Arg243Leu
NM_001167989.1:c.725G>T	NP_001161461.1:p.Arg242Leu
NM_001167990.1:c.704G>T	NP_001161462.1:p.Arg235Leu
NM_001167992.1:c.428G>T	NP_001161464.1:p.Arg143Leu
NM_005710.2:c.728G>T	NP_005701.1:p.Arg243Leu
NM_144495.2:c.443G>T	NP_652766.1:p.Arg148Leu
XM_005272571.3:c.725G>T	XP_005272628.1:p.Arg242Leu
XM_005272572.3:c.443G>T	XP_005272629.1:p.Arg148Leu
XM_011543884.1:c.728G>T	XP_011542186.1:p.Arg243Leu
XM_005272572.4:c.443G>T	XP_005272629.1:p.Arg148Leu
XM_011543884.2:c.728G>T	XP_011542186.1:p.Arg243Leu
XM_017029207.1:c.725G>T	XP_016884696.1:p.Arg242Leu
NM_001032381.2:c.728G>T	NP_001027553.1:p.Arg243Leu
NM_001032382.2:c.728G>T MANE Select	NP_001027554.1:p.Arg243Leu
NM_001032383.2:c.728G>T	NP_001027555.1:p.Arg243Leu
NM_001167989.2:c.725G>T	NP_001161461.1:p.Arg242Leu
NM_001167990.2:c.704G>T	NP_001161462.1:p.Arg235Leu
NM_144495.3:c.443G>T	NP_652766.1:p.Arg148Leu