Canonical Allele Identifier: CA245296

Gene: PQBP1

Linked Data

• ClinVar Variation Id: 197261
• ClinVar RCV Id: RCV000178251
• dbSNP Id: rs797044734
• gnomAD v2: X-48759780-C-T
• gnomAD v4: X-48902503-C-T
• MyVariant Identifiers: chrX:g.48759780C>T (hg19) ; chrX:g.48902503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902503C>T , CM000685.2:g.48902503C>T	GRCh38
NC_000023.10:g.48759780C>T , CM000685.1:g.48759780C>T	GRCh37
NC_000023.9:g.48644724C>T	NCBI36
NG_015967.1:g.9586C>T
NG_015968.2:g.647G>A
NG_034300.1:g.14456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.563C>T	ENSP00000218224.4:p.Pro188Leu
ENST00000376563.6:c.563C>T	ENSP00000365747.1:p.Pro188Leu
ENST00000396763.6:c.563C>T	ENSP00000379985.1:p.Pro188Leu
ENST00000443648.6:c.563C>T	ENSP00000414861.2:p.Pro188Leu
ENST00000456306.2:c.-32-229C>T	ENSP00000393013.2:n.-32-229C>T
ENST00000472742.6:c.444+119C>T	ENSP00000509191.1:n.444+119C>T
ENST00000473764.6:n.1178C>T
ENST00000474671.6:n.1372C>T
ENST00000477997.6:n.1298C>T
ENST00000486150.6:n.1472C>T
ENST00000692023.1:c.*770C>T	ENSP00000509927.1:n.*770C>T
ENST00000447146.7:c.563C>T MANE Select	ENSP00000391759.2:p.Pro188Leu
ENST00000651767.1:c.563C>T	ENSP00000498362.1:p.Pro188Leu
ENST00000218224.8:c.563C>T	ENSP00000218224.4:p.Pro188Leu
ENST00000247140.8:c.293-229C>T	ENSP00000247140.4:n.293-229C>T
ENST00000376563.5:c.563C>T	ENSP00000365747.1:p.Pro188Leu
ENST00000376566.8:c.293-229C>T	ENSP00000365750.4:n.293-229C>T
ENST00000396763.5:c.563C>T	ENSP00000379985.1:p.Pro188Leu
ENST00000443648.5:c.563C>T	ENSP00000414861.1:p.Pro188Leu
ENST00000447146.6:c.563C>T	ENSP00000391759.2:p.Pro188Leu
ENST00000456306.1:c.259-229C>T
ENST00000463529.4:n.563C>T
ENST00000465859.2:n.577C>T
ENST00000470059.5:n.563C>T
ENST00000470062.5:n.549+119C>T
ENST00000472742.5:n.613+119C>T
ENST00000473764.5:n.1135C>T
ENST00000474671.5:n.623C>T
ENST00000477997.5:n.644C>T
NM_001032381.1:c.563C>T	NP_001027553.1:p.Pro188Leu
NM_001032382.1:c.563C>T	NP_001027554.1:p.Pro188Leu
NM_001032383.1:c.563C>T	NP_001027555.1:p.Pro188Leu
NM_001032384.1:c.563C>T	NP_001027556.1:p.Pro188Leu
NM_001167989.1:c.563C>T	NP_001161461.1:p.Pro188Leu
NM_001167990.1:c.539C>T	NP_001161462.1:p.Pro180Leu
NM_001167992.1:c.263C>T	NP_001161464.1:p.Pro88Leu
NM_005710.2:c.563C>T	NP_005701.1:p.Pro188Leu
NM_144495.2:c.293-229C>T	NP_652766.1:n.293-229C>T
XM_005272571.3:c.563C>T	XP_005272628.1:p.Pro188Leu
XM_005272572.3:c.293-229C>T	XP_005272629.1:n.293-229C>T
XM_011543884.1:c.563C>T	XP_011542186.1:p.Pro188Leu
XM_005272572.4:c.293-229C>T	XP_005272629.1:n.293-229C>T
XM_011543884.2:c.563C>T	XP_011542186.1:p.Pro188Leu
XM_017029207.1:c.563C>T	XP_016884696.1:p.Pro188Leu
NM_001032381.2:c.563C>T	NP_001027553.1:p.Pro188Leu
NM_001032382.2:c.563C>T MANE Select	NP_001027554.1:p.Pro188Leu
NM_001032383.2:c.563C>T	NP_001027555.1:p.Pro188Leu
NM_001167989.2:c.563C>T	NP_001161461.1:p.Pro188Leu
NM_001167990.2:c.539C>T	NP_001161462.1:p.Pro180Leu
NM_144495.3:c.293-229C>T	NP_652766.1:n.293-229C>T