Canonical Allele Identifier: CA121282

Gene: PQBP1

Linked Data

• ClinVar Variation Id: 10979
• ClinVar RCV Id: RCV000011726 ; RCV001008093
• dbSNP Id: rs606231193
• gnomAD v2: X-48759667-C-CAG
• gnomAD v3: X-48902390-C-CAG
• gnomAD v4: X-48902390-C-CAG
• MyVariant Identifiers: chrX:g.48759678_48759679dupAG (hg19) ; chrX:g.48759669_48759670insAG (hg19) ; chrX:g.48902401_48902402dupAG (hg38)
• PubMed: PMID:3177467 ; PMID:14634649

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902401_48902402dup , CM000685.2:g.48902401_48902402dup	GRCh38
NC_000023.10:g.48759678_48759679dup , CM000685.1:g.48759678_48759679dup	GRCh37
NC_000023.9:g.48644622_48644623dup	NCBI36
NG_015967.1:g.9484_9485dup
NG_015968.2:g.758_759dup
NG_034300.1:g.14567_14568dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.461_462dup	ENSP00000218224.4:p.Arg155SerfsTer?
ENST00000376563.6:c.461_462dup	ENSP00000365747.1:p.Arg155SerfsTer?
ENST00000396763.6:c.461_462dup	ENSP00000379985.1:p.Arg155SerfsTer?
ENST00000443648.6:c.461_462dup	ENSP00000414861.2:p.Arg155SerfsTer?
ENST00000456306.2:c.-32-331_-32-330dup	ENSP00000393013.2:n.-32-331_-32-330dup
ENST00000472742.6:c.444+17_444+18dup	ENSP00000509191.1:n.444+17_444+18dup
ENST00000473764.6:n.1076_1077dup
ENST00000474671.6:n.1270_1271dup
ENST00000477997.6:n.1196_1197dup
ENST00000486150.6:n.1370_1371dup
ENST00000692023.1:c.*668_*669dup	ENSP00000509927.1:n.*668_*669dup
ENST00000447146.7:c.461_462dup MANE Select	ENSP00000391759.2:p.Arg155SerfsTer?
ENST00000651767.1:c.461_462dup	ENSP00000498362.1:p.Arg155SerfsTer?
ENST00000218224.8:c.461_462dup	ENSP00000218224.4:p.Arg155SerfsTer?
ENST00000247140.8:c.293-331_293-330dup	ENSP00000247140.4:n.293-331_293-330dup
ENST00000376563.5:c.461_462dup	ENSP00000365747.1:p.Arg155SerfsTer?
ENST00000376566.8:c.293-331_293-330dup	ENSP00000365750.4:n.293-331_293-330dup
ENST00000396763.5:c.461_462dup	ENSP00000379985.1:p.Arg155SerfsTer?
ENST00000443648.5:c.461_462dup	ENSP00000414861.1:p.Arg155SerfsTer?
ENST00000447146.6:c.461_462dup	ENSP00000391759.2:p.Arg155SerfsTer?
ENST00000456306.1:c.259-331_259-330dup
ENST00000463529.4:n.461_462dup
ENST00000465859.2:n.475_476dup
ENST00000470059.5:n.461_462dup
ENST00000470062.5:n.549+17_549+18dup
ENST00000472742.5:n.613+17_613+18dup
ENST00000473764.5:n.1033_1034dup
ENST00000474671.5:n.521_522dup
ENST00000477997.5:n.542_543dup
NM_001032381.1:c.461_462dup	NP_001027553.1:p.Arg155SerfsTer?
NM_001032382.1:c.461_462dup	NP_001027554.1:p.Arg155SerfsTer?
NM_001032383.1:c.461_462dup	NP_001027555.1:p.Arg155SerfsTer?
NM_001032384.1:c.461_462dup	NP_001027556.1:p.Arg155SerfsTer?
NM_001167989.1:c.461_462dup	NP_001161461.1:p.Arg155SerfsTer?
NM_001167990.1:c.437_438dup	NP_001161462.1:p.Arg147SerfsTer?
NM_001167992.1:c.202-41_202-40dup	NP_001161464.1:n.202-41_202-40dup
NM_005710.2:c.461_462dup	NP_005701.1:p.Arg155SerfsTer?
NM_144495.2:c.293-331_293-330dup	NP_652766.1:n.293-331_293-330dup
XM_005272571.3:c.461_462dup	XP_005272628.1:p.Arg155SerfsTer?
XM_005272572.3:c.293-331_293-330dup	XP_005272629.1:n.293-331_293-330dup
XM_011543884.1:c.461_462dup	XP_011542186.1:p.Arg155SerfsTer?
XM_005272572.4:c.293-331_293-330dup	XP_005272629.1:n.293-331_293-330dup
XM_011543884.2:c.461_462dup	XP_011542186.1:p.Arg155SerfsTer?
XM_017029207.1:c.461_462dup	XP_016884696.1:p.Arg155SerfsTer?
NM_001032381.2:c.461_462dup	NP_001027553.1:p.Arg155SerfsTer?
NM_001032382.2:c.461_462dup MANE Select	NP_001027554.1:p.Arg155SerfsTer?
NM_001032383.2:c.461_462dup	NP_001027555.1:p.Arg155SerfsTer?
NM_001167989.2:c.461_462dup	NP_001161461.1:p.Arg155SerfsTer?
NM_001167990.2:c.437_438dup	NP_001161462.1:p.Arg147SerfsTer?
NM_144495.3:c.293-331_293-330dup	NP_652766.1:n.293-331_293-330dup