Canonical Allele Identifier: CA412891471

Gene: PQBP1

Linked Data

• dbSNP Id: rs2063450546
• gnomAD v4: X-48902947-C-T
• MyVariant Identifiers: chrX:g.48760224C>T (hg19) ; chrX:g.48902947C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902947C>T , CM000685.2:g.48902947C>T	GRCh38
NC_000023.10:g.48760224C>T , CM000685.1:g.48760224C>T	GRCh37
NC_000023.9:g.48645168C>T	NCBI36
NG_015967.1:g.10030C>T
NG_015968.2:g.203G>A
NG_034300.1:g.14012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.661C>T	ENSP00000218224.4:p.Leu221Phe
ENST00000376563.6:c.661C>T	ENSP00000365747.1:p.Leu221Phe
ENST00000396763.6:c.661C>T	ENSP00000379985.1:p.Leu221Phe
ENST00000443648.6:c.661C>T	ENSP00000414861.2:p.Leu221Phe
ENST00000456306.2:c.52C>T	ENSP00000393013.2:p.Leu18Phe
ENST00000472742.6:c.*78C>T	ENSP00000509191.1:n.*78C>T
ENST00000474671.6:n.1816C>T
ENST00000477997.6:n.1610C>T
ENST00000486150.6:n.1916C>T
ENST00000692023.1:c.*1082C>T	ENSP00000509927.1:n.*1082C>T
ENST00000447146.7:c.661C>T MANE Select	ENSP00000391759.2:p.Leu221Phe
ENST00000651767.1:c.661C>T	ENSP00000498362.1:p.Leu221Phe
ENST00000218224.8:c.661C>T	ENSP00000218224.4:p.Leu221Phe
ENST00000247140.8:c.376C>T	ENSP00000247140.4:p.Leu126Phe
ENST00000376563.5:c.661C>T	ENSP00000365747.1:p.Leu221Phe
ENST00000376566.8:c.376C>T	ENSP00000365750.4:p.Leu126Phe
ENST00000396763.5:c.661C>T	ENSP00000379985.1:p.Leu221Phe
ENST00000447146.6:c.661C>T	ENSP00000391759.2:p.Leu221Phe
ENST00000456306.1:c.342C>T
ENST00000463529.4:n.1007C>T
ENST00000465859.2:n.675C>T
ENST00000470059.5:n.875C>T
ENST00000470062.5:n.633C>T
ENST00000473764.5:n.1233C>T
ENST00000474671.5:n.721C>T
ENST00000477997.5:n.742C>T
NM_001032381.1:c.661C>T	NP_001027553.1:p.Leu221Phe
NM_001032382.1:c.661C>T	NP_001027554.1:p.Leu221Phe
NM_001032383.1:c.661C>T	NP_001027555.1:p.Leu221Phe
NM_001032384.1:c.661C>T	NP_001027556.1:p.Leu221Phe
NM_001167989.1:c.658C>T	NP_001161461.1:p.Leu220Phe
NM_001167990.1:c.637C>T	NP_001161462.1:p.Leu213Phe
NM_001167992.1:c.361C>T	NP_001161464.1:p.Leu121Phe
NM_005710.2:c.661C>T	NP_005701.1:p.Leu221Phe
NM_144495.2:c.376C>T	NP_652766.1:p.Leu126Phe
XM_005272571.3:c.658C>T	XP_005272628.1:p.Leu220Phe
XM_005272572.3:c.376C>T	XP_005272629.1:p.Leu126Phe
XM_011543884.1:c.661C>T	XP_011542186.1:p.Leu221Phe
XM_005272572.4:c.376C>T	XP_005272629.1:p.Leu126Phe
XM_011543884.2:c.661C>T	XP_011542186.1:p.Leu221Phe
XM_017029207.1:c.658C>T	XP_016884696.1:p.Leu220Phe
NM_001032381.2:c.661C>T	NP_001027553.1:p.Leu221Phe
NM_001032382.2:c.661C>T MANE Select	NP_001027554.1:p.Leu221Phe
NM_001032383.2:c.661C>T	NP_001027555.1:p.Leu221Phe
NM_001167989.2:c.658C>T	NP_001161461.1:p.Leu220Phe
NM_001167990.2:c.637C>T	NP_001161462.1:p.Leu213Phe
NM_144495.3:c.376C>T	NP_652766.1:p.Leu126Phe