Canonical Allele Identifier: CA412891746

Gene: PQBP1

Linked Data

• gnomAD v4: X-48903011-A-C
• MyVariant Identifiers: chrX:g.48760288A>C (hg19) ; chrX:g.48903011A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48903011A>C , CM000685.2:g.48903011A>C	GRCh38
NC_000023.10:g.48760288A>C , CM000685.1:g.48760288A>C	GRCh37
NC_000023.9:g.48645232A>C	NCBI36
NG_015967.1:g.10094A>C
NG_015968.2:g.139T>G
NG_034300.1:g.13948T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.725A>C	ENSP00000218224.4:p.Gln242Pro
ENST00000376563.6:c.725A>C	ENSP00000365747.1:p.Gln242Pro
ENST00000396763.6:c.725A>C	ENSP00000379985.1:p.Gln242Pro
ENST00000443648.6:c.725A>C	ENSP00000414861.2:p.Gln242Pro
ENST00000456306.2:c.116A>C	ENSP00000393013.2:p.Gln39Pro
ENST00000472742.6:c.*142A>C	ENSP00000509191.1:n.*142A>C
ENST00000474671.6:n.1880A>C
ENST00000477997.6:n.1674A>C
ENST00000486150.6:n.1980A>C
ENST00000692023.1:c.*1146A>C	ENSP00000509927.1:n.*1146A>C
ENST00000447146.7:c.725A>C MANE Select	ENSP00000391759.2:p.Gln242Pro
ENST00000651767.1:c.725A>C	ENSP00000498362.1:p.Gln242Pro
ENST00000218224.8:c.725A>C	ENSP00000218224.4:p.Gln242Pro
ENST00000247140.8:c.440A>C	ENSP00000247140.4:p.Gln147Pro
ENST00000376563.5:c.725A>C	ENSP00000365747.1:p.Gln242Pro
ENST00000376566.8:c.440A>C	ENSP00000365750.4:p.Gln147Pro
ENST00000396763.5:c.725A>C	ENSP00000379985.1:p.Gln242Pro
ENST00000447146.6:c.725A>C	ENSP00000391759.2:p.Gln242Pro
ENST00000456306.1:c.406A>C
ENST00000463529.4:n.1071A>C
ENST00000465859.2:n.739A>C
ENST00000470059.5:n.939A>C
ENST00000470062.5:n.697A>C
ENST00000473764.5:n.1297A>C
ENST00000474671.5:n.785A>C
ENST00000477997.5:n.806A>C
NM_001032381.1:c.725A>C	NP_001027553.1:p.Gln242Pro
NM_001032382.1:c.725A>C	NP_001027554.1:p.Gln242Pro
NM_001032383.1:c.725A>C	NP_001027555.1:p.Gln242Pro
NM_001032384.1:c.725A>C	NP_001027556.1:p.Gln242Pro
NM_001167989.1:c.722A>C	NP_001161461.1:p.Gln241Pro
NM_001167990.1:c.701A>C	NP_001161462.1:p.Gln234Pro
NM_001167992.1:c.425A>C	NP_001161464.1:p.Gln142Pro
NM_005710.2:c.725A>C	NP_005701.1:p.Gln242Pro
NM_144495.2:c.440A>C	NP_652766.1:p.Gln147Pro
XM_005272571.3:c.722A>C	XP_005272628.1:p.Gln241Pro
XM_005272572.3:c.440A>C	XP_005272629.1:p.Gln147Pro
XM_011543884.1:c.725A>C	XP_011542186.1:p.Gln242Pro
XM_005272572.4:c.440A>C	XP_005272629.1:p.Gln147Pro
XM_011543884.2:c.725A>C	XP_011542186.1:p.Gln242Pro
XM_017029207.1:c.722A>C	XP_016884696.1:p.Gln241Pro
NM_001032381.2:c.725A>C	NP_001027553.1:p.Gln242Pro
NM_001032382.2:c.725A>C MANE Select	NP_001027554.1:p.Gln242Pro
NM_001032383.2:c.725A>C	NP_001027555.1:p.Gln242Pro
NM_001167989.2:c.722A>C	NP_001161461.1:p.Gln241Pro
NM_001167990.2:c.701A>C	NP_001161462.1:p.Gln234Pro
NM_144495.3:c.440A>C	NP_652766.1:p.Gln147Pro