Canonical Allele Identifier: CA412891042

Gene: PQBP1

Linked Data

• gnomAD v4: X-48902732-C-T
• MyVariant Identifiers: chrX:g.48760009C>T (hg19) ; chrX:g.48902732C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902732C>T , CM000685.2:g.48902732C>T	GRCh38
NC_000023.10:g.48760009C>T , CM000685.1:g.48760009C>T	GRCh37
NC_000023.9:g.48644953C>T	NCBI36
NG_015967.1:g.9815C>T
NG_015968.2:g.418G>A
NG_034300.1:g.14227G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.578C>T	ENSP00000218224.4:p.Ala193Val
ENST00000376563.6:c.578C>T	ENSP00000365747.1:p.Ala193Val
ENST00000396763.6:c.578C>T	ENSP00000379985.1:p.Ala193Val
ENST00000443648.6:c.578C>T	ENSP00000414861.2:p.Ala193Val
ENST00000456306.2:c.-32C>T	ENSP00000393013.2:n.-32C>T
ENST00000472742.6:c.445C>T	ENSP00000509191.1:p.Gln149Ter
ENST00000473764.6:n.1407C>T
ENST00000474671.6:n.1601C>T
ENST00000477997.6:n.1527C>T
ENST00000486150.6:n.1701C>T
ENST00000692023.1:c.*999C>T	ENSP00000509927.1:n.*999C>T
ENST00000447146.7:c.578C>T MANE Select	ENSP00000391759.2:p.Ala193Val
ENST00000651767.1:c.578C>T	ENSP00000498362.1:p.Ala193Val
ENST00000218224.8:c.578C>T	ENSP00000218224.4:p.Ala193Val
ENST00000247140.8:c.293C>T	ENSP00000247140.4:p.Ala98Val
ENST00000376563.5:c.578C>T	ENSP00000365747.1:p.Ala193Val
ENST00000376566.8:c.293C>T	ENSP00000365750.4:p.Ala98Val
ENST00000396763.5:c.578C>T	ENSP00000379985.1:p.Ala193Val
ENST00000443648.5:c.578C>T	ENSP00000414861.1:p.Ala193Val
ENST00000447146.6:c.578C>T	ENSP00000391759.2:p.Ala193Val
ENST00000456306.1:c.259C>T
ENST00000463529.4:n.792C>T
ENST00000465859.2:n.592C>T
ENST00000470059.5:n.792C>T
ENST00000470062.5:n.550C>T
ENST00000472742.5:n.614C>T
ENST00000473764.5:n.1150C>T
ENST00000474671.5:n.638C>T
ENST00000477997.5:n.659C>T
NM_001032381.1:c.578C>T	NP_001027553.1:p.Ala193Val
NM_001032382.1:c.578C>T	NP_001027554.1:p.Ala193Val
NM_001032383.1:c.578C>T	NP_001027555.1:p.Ala193Val
NM_001032384.1:c.578C>T	NP_001027556.1:p.Ala193Val
NM_001167989.1:c.578-3C>T	NP_001161461.1:n.578-3C>T
NM_001167990.1:c.554C>T	NP_001161462.1:p.Ala185Val
NM_001167992.1:c.278C>T	NP_001161464.1:p.Ala93Val
NM_005710.2:c.578C>T	NP_005701.1:p.Ala193Val
NM_144495.2:c.293C>T	NP_652766.1:p.Ala98Val
XM_005272571.3:c.578-3C>T	XP_005272628.1:n.578-3C>T
XM_005272572.3:c.293C>T	XP_005272629.1:p.Ala98Val
XM_011543884.1:c.578C>T	XP_011542186.1:p.Ala193Val
XM_005272572.4:c.293C>T	XP_005272629.1:p.Ala98Val
XM_011543884.2:c.578C>T	XP_011542186.1:p.Ala193Val
XM_017029207.1:c.578-3C>T	XP_016884696.1:n.578-3C>T
NM_001032381.2:c.578C>T	NP_001027553.1:p.Ala193Val
NM_001032382.2:c.578C>T MANE Select	NP_001027554.1:p.Ala193Val
NM_001032383.2:c.578C>T	NP_001027555.1:p.Ala193Val
NM_001167989.2:c.578-3C>T	NP_001161461.1:n.578-3C>T
NM_001167990.2:c.554C>T	NP_001161462.1:p.Ala185Val
NM_144495.3:c.293C>T	NP_652766.1:p.Ala98Val