Canonical Allele Identifier: CA412891754

Gene: PQBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48903013C>T , CM000685.2:g.48903013C>T	GRCh38
NC_000023.10:g.48760290C>T , CM000685.1:g.48760290C>T	GRCh37
NC_000023.9:g.48645234C>T	NCBI36
NG_015967.1:g.10096C>T
NG_015968.2:g.137G>A
NG_034300.1:g.13946G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001032382.2:c.727C>T MANE Select	NP_001027554.1:p.Arg243Trp
ENST00000447146.7:c.727C>T MANE Select	ENSP00000391759.2:p.Arg243Trp
NM_001032381.1:c.727C>T	NP_001027553.1:p.Arg243Trp
NM_001032381.2:c.727C>T	NP_001027553.1:p.Arg243Trp
NM_001032382.1:c.727C>T	NP_001027554.1:p.Arg243Trp
NM_001032383.1:c.727C>T	NP_001027555.1:p.Arg243Trp
NM_001032383.2:c.727C>T	NP_001027555.1:p.Arg243Trp
NM_001032384.1:c.727C>T	NP_001027556.1:p.Arg243Trp
NM_001167989.1:c.724C>T	NP_001161461.1:p.Arg242Trp
NM_001167989.2:c.724C>T	NP_001161461.1:p.Arg242Trp
NM_001167990.1:c.703C>T	NP_001161462.1:p.Arg235Trp
NM_001167990.2:c.703C>T	NP_001161462.1:p.Arg235Trp
NM_001167992.1:c.427C>T	NP_001161464.1:p.Arg143Trp
NM_005710.2:c.727C>T	NP_005701.1:p.Arg243Trp
NM_144495.2:c.442C>T	NP_652766.1:p.Arg148Trp
NM_144495.3:c.442C>T	NP_652766.1:p.Arg148Trp
ENST00000218224.8:c.727C>T	ENSP00000218224.4:p.Arg243Trp
ENST00000218224.9:c.727C>T	ENSP00000218224.4:p.Arg243Trp
ENST00000247140.8:c.442C>T	ENSP00000247140.4:p.Arg148Trp
ENST00000376563.5:c.727C>T	ENSP00000365747.1:p.Arg243Trp
ENST00000376563.6:c.727C>T	ENSP00000365747.1:p.Arg243Trp
ENST00000376566.8:c.442C>T	ENSP00000365750.4:p.Arg148Trp
ENST00000396763.5:c.727C>T	ENSP00000379985.1:p.Arg243Trp
ENST00000396763.6:c.727C>T	ENSP00000379985.1:p.Arg243Trp
ENST00000443648.6:c.727C>T	ENSP00000414861.2:p.Arg243Trp
ENST00000447146.6:c.727C>T	ENSP00000391759.2:p.Arg243Trp
ENST00000456306.1:c.408C>T
ENST00000456306.2:c.118C>T	ENSP00000393013.2:p.Arg40Trp
ENST00000463529.4:n.1073C>T
ENST00000465859.2:n.741C>T
ENST00000470059.5:n.941C>T
ENST00000470062.5:n.699C>T
ENST00000472742.6:c.*144C>T	ENSP00000509191.1:n.*144C>T
ENST00000473764.5:n.1299C>T
ENST00000474671.5:n.787C>T
ENST00000474671.6:n.1882C>T
ENST00000477997.5:n.808C>T
ENST00000477997.6:n.1676C>T
ENST00000486150.6:n.1982C>T
ENST00000651767.1:c.727C>T	ENSP00000498362.1:p.Arg243Trp
ENST00000692023.1:c.*1148C>T	ENSP00000509927.1:n.*1148C>T
XM_005272571.3:c.724C>T	XP_005272628.1:p.Arg242Trp
XM_005272572.3:c.442C>T	XP_005272629.1:p.Arg148Trp
XM_005272572.4:c.442C>T	XP_005272629.1:p.Arg148Trp
XM_011543884.1:c.727C>T	XP_011542186.1:p.Arg243Trp
XM_011543884.2:c.727C>T	XP_011542186.1:p.Arg243Trp
XM_017029207.1:c.724C>T	XP_016884696.1:p.Arg242Trp