Canonical Allele Identifier: CA10405992

Gene: PQBP1

Linked Data

• dbSNP Id: rs782687130
• ExAC: X:48760316 G / A
• gnomAD v4: X-48903039-G-A
• MyVariant Identifiers: chrX:g.48760316G>A (hg19) ; chrX:g.48903039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48903039G>A , CM000685.2:g.48903039G>A	GRCh38
NC_000023.10:g.48760316G>A , CM000685.1:g.48760316G>A	GRCh37
NC_000023.9:g.48645260G>A	NCBI36
NG_015967.1:g.10122G>A
NG_015968.2:g.111C>T
NG_034300.1:g.13920C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.753G>A	ENSP00000218224.4:p.Val251=
ENST00000376563.6:c.753G>A	ENSP00000365747.1:p.Val251=
ENST00000396763.6:c.753G>A	ENSP00000379985.1:p.Val251=
ENST00000443648.6:c.753G>A	ENSP00000414861.2:p.Val251=
ENST00000456306.2:c.144G>A	ENSP00000393013.2:p.Val48=
ENST00000472742.6:c.*170G>A	ENSP00000509191.1:n.*170G>A
ENST00000474671.6:n.1908G>A
ENST00000477997.6:n.1702G>A
ENST00000486150.6:n.2008G>A
ENST00000692023.1:c.*1174G>A	ENSP00000509927.1:n.*1174G>A
ENST00000447146.7:c.753G>A MANE Select	ENSP00000391759.2:p.Val251=
ENST00000651767.1:c.753G>A	ENSP00000498362.1:p.Val251=
ENST00000218224.8:c.753G>A	ENSP00000218224.4:p.Val251=
ENST00000247140.8:c.468G>A	ENSP00000247140.4:p.Val156=
ENST00000376563.5:c.753G>A	ENSP00000365747.1:p.Val251=
ENST00000376566.8:c.468G>A	ENSP00000365750.4:p.Val156=
ENST00000396763.5:c.753G>A	ENSP00000379985.1:p.Val251=
ENST00000447146.6:c.753G>A	ENSP00000391759.2:p.Val251=
ENST00000456306.1:c.434G>A
ENST00000463529.4:n.1099G>A
ENST00000465859.2:n.767G>A
ENST00000470059.5:n.967G>A
ENST00000470062.5:n.725G>A
ENST00000473764.5:n.1325G>A
ENST00000474671.5:n.813G>A
ENST00000477997.5:n.834G>A
NM_001032381.1:c.753G>A	NP_001027553.1:p.Val251=
NM_001032382.1:c.753G>A	NP_001027554.1:p.Val251=
NM_001032383.1:c.753G>A	NP_001027555.1:p.Val251=
NM_001032384.1:c.753G>A	NP_001027556.1:p.Val251=
NM_001167989.1:c.750G>A	NP_001161461.1:p.Val250=
NM_001167990.1:c.729G>A	NP_001161462.1:p.Val243=
NM_001167992.1:c.453G>A	NP_001161464.1:p.Val151=
NM_005710.2:c.753G>A	NP_005701.1:p.Val251=
NM_144495.2:c.468G>A	NP_652766.1:p.Val156=
XM_005272571.3:c.750G>A	XP_005272628.1:p.Val250=
XM_005272572.3:c.468G>A	XP_005272629.1:p.Val156=
XM_011543884.1:c.753G>A	XP_011542186.1:p.Val251=
XM_005272572.4:c.468G>A	XP_005272629.1:p.Val156=
XM_011543884.2:c.753G>A	XP_011542186.1:p.Val251=
XM_017029207.1:c.750G>A	XP_016884696.1:p.Val250=
NM_001032381.2:c.753G>A	NP_001027553.1:p.Val251=
NM_001032382.2:c.753G>A MANE Select	NP_001027554.1:p.Val251=
NM_001032383.2:c.753G>A	NP_001027555.1:p.Val251=
NM_001167989.2:c.750G>A	NP_001161461.1:p.Val250=
NM_001167990.2:c.729G>A	NP_001161462.1:p.Val243=
NM_144495.3:c.468G>A	NP_652766.1:p.Val156=