Canonical Allele Identifier: CA10646234

Gene: PQBP1

Linked Data

• ClinVar Variation Id: 368452
• ClinVar RCV Id: RCV000339483
• dbSNP Id: rs150603792
• gnomAD v2: X-48755706-C-T
• gnomAD v3: X-48898423-C-T
• gnomAD v4: X-48898423-C-T
• MyVariant Identifiers: chrX:g.48755706C>T (hg19) ; chrX:g.48898423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48898423C>T , CM000685.2:g.48898423C>T	GRCh38
NC_000023.10:g.48755706C>T , CM000685.1:g.48755706C>T	GRCh37
NC_000023.9:g.48640650C>T	NCBI36
NG_015967.1:g.5512C>T
NG_015968.2:g.4727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.-87C>T	ENSP00000218224.4:n.-87C>T
ENST00000376563.6:c.-18-69C>T	ENSP00000365747.1:n.-18-69C>T
ENST00000396763.6:c.-18-69C>T	ENSP00000379985.1:n.-18-69C>T
ENST00000443648.6:c.-18-69C>T	ENSP00000414861.2:n.-18-69C>T
ENST00000456306.2:c.-258+73C>T	ENSP00000393013.2:n.-258+73C>T
ENST00000472742.6:c.-18-69C>T	ENSP00000509191.1:n.-18-69C>T
ENST00000473764.6:n.339C>T
ENST00000474671.6:n.164-69C>T
ENST00000477997.6:n.90-69C>T
ENST00000486150.6:n.74-69C>T
ENST00000692023.1:c.-87C>T	ENSP00000509927.1:n.-87C>T
ENST00000447146.7:c.-18-69C>T MANE Select	ENSP00000391759.2:n.-18-69C>T
ENST00000651767.1:c.-18-69C>T	ENSP00000498362.1:n.-18-69C>T
ENST00000218224.8:c.-87C>T	ENSP00000218224.4:n.-87C>T
ENST00000247140.8:c.-18-69C>T	ENSP00000247140.4:n.-18-69C>T
ENST00000376563.5:c.-18-69C>T	ENSP00000365747.1:n.-18-69C>T
ENST00000376566.8:c.-18-69C>T	ENSP00000365750.4:n.-18-69C>T
ENST00000396763.5:c.-18-69C>T	ENSP00000379985.1:n.-18-69C>T
ENST00000443648.5:c.-18-69C>T	ENSP00000414861.1:n.-18-69C>T
ENST00000447146.6:c.-18-69C>T	ENSP00000391759.2:n.-18-69C>T
ENST00000456306.1:c.33+73C>T
ENST00000470062.5:n.88-69C>T
ENST00000472742.5:n.152-69C>T
ENST00000473764.5:n.486C>T
ENST00000474671.5:n.43-69C>T
ENST00000477997.5:n.64-69C>T
ENST00000486150.5:n.478C>T
NM_001032381.1:c.-18-69C>T	NP_001027553.1:n.-18-69C>T
NM_001032382.1:c.-18-69C>T	NP_001027554.1:n.-18-69C>T
NM_001032383.1:c.-18-69C>T	NP_001027555.1:n.-18-69C>T
NM_001032384.1:c.-18-69C>T	NP_001027556.1:n.-18-69C>T
NM_001167989.1:c.-18-69C>T	NP_001161461.1:n.-18-69C>T
NM_001167990.1:c.-18-69C>T	NP_001161462.1:n.-18-69C>T
NM_005710.2:c.-87C>T	NP_005701.1:n.-87C>T
NM_144495.2:c.-18-69C>T	NP_652766.1:n.-18-69C>T
XM_005272571.3:c.-18-69C>T	XP_005272628.1:n.-18-69C>T
XM_005272572.3:c.-18-69C>T	XP_005272629.1:n.-18-69C>T
XM_011543884.1:c.-18-69C>T	XP_011542186.1:n.-18-69C>T
XM_005272572.4:c.-18-69C>T	XP_005272629.1:n.-18-69C>T
XM_011543884.2:c.-18-69C>T	XP_011542186.1:n.-18-69C>T
XM_017029207.1:c.-18-69C>T	XP_016884696.1:n.-18-69C>T
NM_001032381.2:c.-18-69C>T	NP_001027553.1:n.-18-69C>T
NM_001032382.2:c.-18-69C>T MANE Select	NP_001027554.1:n.-18-69C>T
NM_001032383.2:c.-18-69C>T	NP_001027555.1:n.-18-69C>T
NM_001167989.2:c.-18-69C>T	NP_001161461.1:n.-18-69C>T
NM_001167990.2:c.-18-69C>T	NP_001161462.1:n.-18-69C>T
NM_144495.3:c.-18-69C>T	NP_652766.1:n.-18-69C>T