Canonical Allele Identifier: CA412891633

Gene: PQBP1

Linked Data

• MyVariant Identifiers: chrX:g.48760261C>G (hg19) ; chrX:g.48902984C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902984C>G , CM000685.2:g.48902984C>G	GRCh38
NC_000023.10:g.48760261C>G , CM000685.1:g.48760261C>G	GRCh37
NC_000023.9:g.48645205C>G	NCBI36
NG_015967.1:g.10067C>G
NG_015968.2:g.166G>C
NG_034300.1:g.13975G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.698C>G	ENSP00000218224.4:p.Thr233Ser
ENST00000376563.6:c.698C>G	ENSP00000365747.1:p.Thr233Ser
ENST00000396763.6:c.698C>G	ENSP00000379985.1:p.Thr233Ser
ENST00000443648.6:c.698C>G	ENSP00000414861.2:p.Thr233Ser
ENST00000456306.2:c.89C>G	ENSP00000393013.2:p.Thr30Ser
ENST00000472742.6:c.*115C>G	ENSP00000509191.1:n.*115C>G
ENST00000474671.6:n.1853C>G
ENST00000477997.6:n.1647C>G
ENST00000486150.6:n.1953C>G
ENST00000692023.1:c.*1119C>G	ENSP00000509927.1:n.*1119C>G
ENST00000447146.7:c.698C>G MANE Select	ENSP00000391759.2:p.Thr233Ser
ENST00000651767.1:c.698C>G	ENSP00000498362.1:p.Thr233Ser
ENST00000218224.8:c.698C>G	ENSP00000218224.4:p.Thr233Ser
ENST00000247140.8:c.413C>G	ENSP00000247140.4:p.Thr138Ser
ENST00000376563.5:c.698C>G	ENSP00000365747.1:p.Thr233Ser
ENST00000376566.8:c.413C>G	ENSP00000365750.4:p.Thr138Ser
ENST00000396763.5:c.698C>G	ENSP00000379985.1:p.Thr233Ser
ENST00000447146.6:c.698C>G	ENSP00000391759.2:p.Thr233Ser
ENST00000456306.1:c.379C>G
ENST00000463529.4:n.1044C>G
ENST00000465859.2:n.712C>G
ENST00000470059.5:n.912C>G
ENST00000470062.5:n.670C>G
ENST00000473764.5:n.1270C>G
ENST00000474671.5:n.758C>G
ENST00000477997.5:n.779C>G
NM_001032381.1:c.698C>G	NP_001027553.1:p.Thr233Ser
NM_001032382.1:c.698C>G	NP_001027554.1:p.Thr233Ser
NM_001032383.1:c.698C>G	NP_001027555.1:p.Thr233Ser
NM_001032384.1:c.698C>G	NP_001027556.1:p.Thr233Ser
NM_001167989.1:c.695C>G	NP_001161461.1:p.Thr232Ser
NM_001167990.1:c.674C>G	NP_001161462.1:p.Thr225Ser
NM_001167992.1:c.398C>G	NP_001161464.1:p.Thr133Ser
NM_005710.2:c.698C>G	NP_005701.1:p.Thr233Ser
NM_144495.2:c.413C>G	NP_652766.1:p.Thr138Ser
XM_005272571.3:c.695C>G	XP_005272628.1:p.Thr232Ser
XM_005272572.3:c.413C>G	XP_005272629.1:p.Thr138Ser
XM_011543884.1:c.698C>G	XP_011542186.1:p.Thr233Ser
XM_005272572.4:c.413C>G	XP_005272629.1:p.Thr138Ser
XM_011543884.2:c.698C>G	XP_011542186.1:p.Thr233Ser
XM_017029207.1:c.695C>G	XP_016884696.1:p.Thr232Ser
NM_001032381.2:c.698C>G	NP_001027553.1:p.Thr233Ser
NM_001032382.2:c.698C>G MANE Select	NP_001027554.1:p.Thr233Ser
NM_001032383.2:c.698C>G	NP_001027555.1:p.Thr233Ser
NM_001167989.2:c.695C>G	NP_001161461.1:p.Thr232Ser
NM_001167990.2:c.674C>G	NP_001161462.1:p.Thr225Ser
NM_144495.3:c.413C>G	NP_652766.1:p.Thr138Ser