Canonical Allele Identifier: CA2428428049

Gene: PQBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902788G= , CM000685.2:g.48902788G=	GRCh38
NC_000023.10:g.48760065G= , CM000685.1:g.48760065G=	GRCh37
NC_000023.9:g.48645009G=	NCBI36
NG_015967.1:g.9871G=
NG_015968.2:g.362C=
NG_034300.1:g.14171C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.634G=	ENSP00000218224.4:p.Ala212=
ENST00000376563.6:c.634G=	ENSP00000365747.1:p.Ala212=
ENST00000396763.6:c.634G=	ENSP00000379985.1:p.Ala212=
ENST00000443648.6:c.634G=	ENSP00000414861.2:p.Ala212=
ENST00000456306.2:c.25G=	ENSP00000393013.2:p.Ala9=
ENST00000472742.6:c.*51G=	ENSP00000509191.1:n.*51G=
ENST00000473764.6:n.1463G=
ENST00000474671.6:n.1657G=
ENST00000477997.6:n.1583G=
ENST00000486150.6:n.1757G=
ENST00000692023.1:c.*1055G=	ENSP00000509927.1:n.*1055G=
ENST00000447146.7:c.634G= MANE Select	ENSP00000391759.2:p.Ala212=
ENST00000651767.1:c.634G=	ENSP00000498362.1:p.Ala212=
ENST00000218224.8:c.634G=	ENSP00000218224.4:p.Ala212=
ENST00000247140.8:c.349G=	ENSP00000247140.4:p.Ala117=
ENST00000376563.5:c.634G=	ENSP00000365747.1:p.Ala212=
ENST00000376566.8:c.349G=	ENSP00000365750.4:p.Ala117=
ENST00000396763.5:c.634G=	ENSP00000379985.1:p.Ala212=
ENST00000443648.5:c.634G=	ENSP00000414861.1:p.Ala212=
ENST00000447146.6:c.634G=	ENSP00000391759.2:p.Ala212=
ENST00000456306.1:c.315G=
ENST00000463529.4:n.848G=
ENST00000465859.2:n.648G=
ENST00000470059.5:n.848G=
ENST00000470062.5:n.606G=
ENST00000472742.5:n.670G=
ENST00000473764.5:n.1206G=
ENST00000474671.5:n.694G=
ENST00000477997.5:n.715G=
NM_001032381.1:c.634G=	NP_001027553.1:p.Ala212=
NM_001032382.1:c.634G=	NP_001027554.1:p.Ala212=
NM_001032383.1:c.634G=	NP_001027555.1:p.Ala212=
NM_001032384.1:c.634G=	NP_001027556.1:p.Ala212=
NM_001167989.1:c.631G=	NP_001161461.1:p.Ala211=
NM_001167990.1:c.610G=	NP_001161462.1:p.Ala204=
NM_001167992.1:c.334G=	NP_001161464.1:p.Ala112=
NM_005710.2:c.634G=	NP_005701.1:p.Ala212=
NM_144495.2:c.349G=	NP_652766.1:p.Ala117=
XM_005272571.3:c.631G=	XP_005272628.1:p.Ala211=
XM_005272572.3:c.349G=	XP_005272629.1:p.Ala117=
XM_011543884.1:c.634G=	XP_011542186.1:p.Ala212=
XM_005272572.4:c.349G=	XP_005272629.1:p.Ala117=
XM_011543884.2:c.634G=	XP_011542186.1:p.Ala212=
XM_017029207.1:c.631G=	XP_016884696.1:p.Ala211=
NM_001032381.2:c.634G=	NP_001027553.1:p.Ala212=
NM_001032382.2:c.634G= MANE Select	NP_001027554.1:p.Ala212=
NM_001032383.2:c.634G=	NP_001027555.1:p.Ala212=
NM_001167989.2:c.631G=	NP_001161461.1:p.Ala211=
NM_001167990.2:c.610G=	NP_001161462.1:p.Ala204=
NM_144495.3:c.349G=	NP_652766.1:p.Ala117=