Canonical Allele Identifier: CA412891416

Gene: PQBP1

Linked Data

• MyVariant Identifiers: chrX:g.48760212T>A (hg19) ; chrX:g.48902935T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902935T>A , CM000685.2:g.48902935T>A	GRCh38
NC_000023.10:g.48760212T>A , CM000685.1:g.48760212T>A	GRCh37
NC_000023.9:g.48645156T>A	NCBI36
NG_015967.1:g.10018T>A
NG_015968.2:g.215A>T
NG_034300.1:g.14024A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.649T>A	ENSP00000218224.4:p.Trp217Arg
ENST00000376563.6:c.649T>A	ENSP00000365747.1:p.Trp217Arg
ENST00000396763.6:c.649T>A	ENSP00000379985.1:p.Trp217Arg
ENST00000443648.6:c.649T>A	ENSP00000414861.2:p.Trp217Arg
ENST00000456306.2:c.40T>A	ENSP00000393013.2:p.Trp14Arg
ENST00000472742.6:c.*66T>A	ENSP00000509191.1:n.*66T>A
ENST00000474671.6:n.1804T>A
ENST00000477997.6:n.1598T>A
ENST00000486150.6:n.1904T>A
ENST00000692023.1:c.*1070T>A	ENSP00000509927.1:n.*1070T>A
ENST00000447146.7:c.649T>A MANE Select	ENSP00000391759.2:p.Trp217Arg
ENST00000651767.1:c.649T>A	ENSP00000498362.1:p.Trp217Arg
ENST00000218224.8:c.649T>A	ENSP00000218224.4:p.Trp217Arg
ENST00000247140.8:c.364T>A	ENSP00000247140.4:p.Trp122Arg
ENST00000376563.5:c.649T>A	ENSP00000365747.1:p.Trp217Arg
ENST00000376566.8:c.364T>A	ENSP00000365750.4:p.Trp122Arg
ENST00000396763.5:c.649T>A	ENSP00000379985.1:p.Trp217Arg
ENST00000447146.6:c.649T>A	ENSP00000391759.2:p.Trp217Arg
ENST00000456306.1:c.330T>A
ENST00000463529.4:n.995T>A
ENST00000465859.2:n.663T>A
ENST00000470059.5:n.863T>A
ENST00000470062.5:n.621T>A
ENST00000473764.5:n.1221T>A
ENST00000474671.5:n.709T>A
ENST00000477997.5:n.730T>A
NM_001032381.1:c.649T>A	NP_001027553.1:p.Trp217Arg
NM_001032382.1:c.649T>A	NP_001027554.1:p.Trp217Arg
NM_001032383.1:c.649T>A	NP_001027555.1:p.Trp217Arg
NM_001032384.1:c.649T>A	NP_001027556.1:p.Trp217Arg
NM_001167989.1:c.646T>A	NP_001161461.1:p.Trp216Arg
NM_001167990.1:c.625T>A	NP_001161462.1:p.Trp209Arg
NM_001167992.1:c.349T>A	NP_001161464.1:p.Trp117Arg
NM_005710.2:c.649T>A	NP_005701.1:p.Trp217Arg
NM_144495.2:c.364T>A	NP_652766.1:p.Trp122Arg
XM_005272571.3:c.646T>A	XP_005272628.1:p.Trp216Arg
XM_005272572.3:c.364T>A	XP_005272629.1:p.Trp122Arg
XM_011543884.1:c.649T>A	XP_011542186.1:p.Trp217Arg
XM_005272572.4:c.364T>A	XP_005272629.1:p.Trp122Arg
XM_011543884.2:c.649T>A	XP_011542186.1:p.Trp217Arg
XM_017029207.1:c.646T>A	XP_016884696.1:p.Trp216Arg
NM_001032381.2:c.649T>A	NP_001027553.1:p.Trp217Arg
NM_001032382.2:c.649T>A MANE Select	NP_001027554.1:p.Trp217Arg
NM_001032383.2:c.649T>A	NP_001027555.1:p.Trp217Arg
NM_001167989.2:c.646T>A	NP_001161461.1:p.Trp216Arg
NM_001167990.2:c.625T>A	NP_001161462.1:p.Trp209Arg
NM_144495.3:c.364T>A	NP_652766.1:p.Trp122Arg