Canonical Allele Identifier: CA516359830

Gene: PQBP1

Linked Data

• MyVariant Identifiers: chrX:g.48759781C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902504C>G , CM000685.2:g.48902504C>G	GRCh38
NC_000023.10:g.48759781C>G , CM000685.1:g.48759781C>G	GRCh37
NC_000023.9:g.48644725C>G	NCBI36
NG_015967.1:g.9587C>G
NG_015968.2:g.646G>C
NG_034300.1:g.14455G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.564C>G	ENSP00000218224.4:p.Pro188=
ENST00000376563.6:c.564C>G	ENSP00000365747.1:p.Pro188=
ENST00000396763.6:c.564C>G	ENSP00000379985.1:p.Pro188=
ENST00000443648.6:c.564C>G	ENSP00000414861.2:p.Pro188=
ENST00000456306.2:c.-32-228C>G	ENSP00000393013.2:n.-32-228C>G
ENST00000472742.6:c.444+120C>G	ENSP00000509191.1:n.444+120C>G
ENST00000473764.6:n.1179C>G
ENST00000474671.6:n.1373C>G
ENST00000477997.6:n.1299C>G
ENST00000486150.6:n.1473C>G
ENST00000692023.1:c.*771C>G	ENSP00000509927.1:n.*771C>G
ENST00000447146.7:c.564C>G MANE Select	ENSP00000391759.2:p.Pro188=
ENST00000651767.1:c.564C>G	ENSP00000498362.1:p.Pro188=
ENST00000218224.8:c.564C>G	ENSP00000218224.4:p.Pro188=
ENST00000247140.8:c.293-228C>G	ENSP00000247140.4:n.293-228C>G
ENST00000376563.5:c.564C>G	ENSP00000365747.1:p.Pro188=
ENST00000376566.8:c.293-228C>G	ENSP00000365750.4:n.293-228C>G
ENST00000396763.5:c.564C>G	ENSP00000379985.1:p.Pro188=
ENST00000443648.5:c.564C>G	ENSP00000414861.1:p.Pro188=
ENST00000447146.6:c.564C>G	ENSP00000391759.2:p.Pro188=
ENST00000456306.1:c.259-228C>G
ENST00000463529.4:n.564C>G
ENST00000465859.2:n.578C>G
ENST00000470059.5:n.564C>G
ENST00000470062.5:n.549+120C>G
ENST00000472742.5:n.613+120C>G
ENST00000473764.5:n.1136C>G
ENST00000474671.5:n.624C>G
ENST00000477997.5:n.645C>G
NM_001032381.1:c.564C>G	NP_001027553.1:p.Pro188=
NM_001032382.1:c.564C>G	NP_001027554.1:p.Pro188=
NM_001032383.1:c.564C>G	NP_001027555.1:p.Pro188=
NM_001032384.1:c.564C>G	NP_001027556.1:p.Pro188=
NM_001167989.1:c.564C>G	NP_001161461.1:p.Pro188=
NM_001167990.1:c.540C>G	NP_001161462.1:p.Pro180=
NM_001167992.1:c.264C>G	NP_001161464.1:p.Pro88=
NM_005710.2:c.564C>G	NP_005701.1:p.Pro188=
NM_144495.2:c.293-228C>G	NP_652766.1:n.293-228C>G
XM_005272571.3:c.564C>G	XP_005272628.1:p.Pro188=
XM_005272572.3:c.293-228C>G	XP_005272629.1:n.293-228C>G
XM_011543884.1:c.564C>G	XP_011542186.1:p.Pro188=
XM_005272572.4:c.293-228C>G	XP_005272629.1:n.293-228C>G
XM_011543884.2:c.564C>G	XP_011542186.1:p.Pro188=
XM_017029207.1:c.564C>G	XP_016884696.1:p.Pro188=
NM_001032381.2:c.564C>G	NP_001027553.1:p.Pro188=
NM_001032382.2:c.564C>G MANE Select	NP_001027554.1:p.Pro188=
NM_001032383.2:c.564C>G	NP_001027555.1:p.Pro188=
NM_001167989.2:c.564C>G	NP_001161461.1:p.Pro188=
NM_001167990.2:c.540C>G	NP_001161462.1:p.Pro180=
NM_144495.3:c.293-228C>G	NP_652766.1:n.293-228C>G