Canonical Allele Identifier: CA412891748

Gene: PQBP1

Linked Data

• MyVariant Identifiers: chrX:g.48760289G>C (hg19) ; chrX:g.48903012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48903012G>C , CM000685.2:g.48903012G>C	GRCh38
NC_000023.10:g.48760289G>C , CM000685.1:g.48760289G>C	GRCh37
NC_000023.9:g.48645233G>C	NCBI36
NG_015967.1:g.10095G>C
NG_015968.2:g.138C>G
NG_034300.1:g.13947C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.726G>C	ENSP00000218224.4:p.Gln242His
ENST00000376563.6:c.726G>C	ENSP00000365747.1:p.Gln242His
ENST00000396763.6:c.726G>C	ENSP00000379985.1:p.Gln242His
ENST00000443648.6:c.726G>C	ENSP00000414861.2:p.Gln242His
ENST00000456306.2:c.117G>C	ENSP00000393013.2:p.Gln39His
ENST00000472742.6:c.*143G>C	ENSP00000509191.1:n.*143G>C
ENST00000474671.6:n.1881G>C
ENST00000477997.6:n.1675G>C
ENST00000486150.6:n.1981G>C
ENST00000692023.1:c.*1147G>C	ENSP00000509927.1:n.*1147G>C
ENST00000447146.7:c.726G>C MANE Select	ENSP00000391759.2:p.Gln242His
ENST00000651767.1:c.726G>C	ENSP00000498362.1:p.Gln242His
ENST00000218224.8:c.726G>C	ENSP00000218224.4:p.Gln242His
ENST00000247140.8:c.441G>C	ENSP00000247140.4:p.Gln147His
ENST00000376563.5:c.726G>C	ENSP00000365747.1:p.Gln242His
ENST00000376566.8:c.441G>C	ENSP00000365750.4:p.Gln147His
ENST00000396763.5:c.726G>C	ENSP00000379985.1:p.Gln242His
ENST00000447146.6:c.726G>C	ENSP00000391759.2:p.Gln242His
ENST00000456306.1:c.407G>C
ENST00000463529.4:n.1072G>C
ENST00000465859.2:n.740G>C
ENST00000470059.5:n.940G>C
ENST00000470062.5:n.698G>C
ENST00000473764.5:n.1298G>C
ENST00000474671.5:n.786G>C
ENST00000477997.5:n.807G>C
NM_001032381.1:c.726G>C	NP_001027553.1:p.Gln242His
NM_001032382.1:c.726G>C	NP_001027554.1:p.Gln242His
NM_001032383.1:c.726G>C	NP_001027555.1:p.Gln242His
NM_001032384.1:c.726G>C	NP_001027556.1:p.Gln242His
NM_001167989.1:c.723G>C	NP_001161461.1:p.Gln241His
NM_001167990.1:c.702G>C	NP_001161462.1:p.Gln234His
NM_001167992.1:c.426G>C	NP_001161464.1:p.Gln142His
NM_005710.2:c.726G>C	NP_005701.1:p.Gln242His
NM_144495.2:c.441G>C	NP_652766.1:p.Gln147His
XM_005272571.3:c.723G>C	XP_005272628.1:p.Gln241His
XM_005272572.3:c.441G>C	XP_005272629.1:p.Gln147His
XM_011543884.1:c.726G>C	XP_011542186.1:p.Gln242His
XM_005272572.4:c.441G>C	XP_005272629.1:p.Gln147His
XM_011543884.2:c.726G>C	XP_011542186.1:p.Gln242His
XM_017029207.1:c.723G>C	XP_016884696.1:p.Gln241His
NM_001032381.2:c.726G>C	NP_001027553.1:p.Gln242His
NM_001032382.2:c.726G>C MANE Select	NP_001027554.1:p.Gln242His
NM_001032383.2:c.726G>C	NP_001027555.1:p.Gln242His
NM_001167989.2:c.723G>C	NP_001161461.1:p.Gln241His
NM_001167990.2:c.702G>C	NP_001161462.1:p.Gln234His
NM_144495.3:c.441G>C	NP_652766.1:p.Gln147His