Canonical Allele Identifier: CA412891781

Gene: PQBP1

Linked Data

• MyVariant Identifiers: chrX:g.48760297A>C (hg19) ; chrX:g.48903020A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48903020A>C , CM000685.2:g.48903020A>C	GRCh38
NC_000023.10:g.48760297A>C , CM000685.1:g.48760297A>C	GRCh37
NC_000023.9:g.48645241A>C	NCBI36
NG_015967.1:g.10103A>C
NG_015968.2:g.130T>G
NG_034300.1:g.13939T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.734A>C	ENSP00000218224.4:p.Tyr245Ser
ENST00000376563.6:c.734A>C	ENSP00000365747.1:p.Tyr245Ser
ENST00000396763.6:c.734A>C	ENSP00000379985.1:p.Tyr245Ser
ENST00000443648.6:c.734A>C	ENSP00000414861.2:p.Tyr245Ser
ENST00000456306.2:c.125A>C	ENSP00000393013.2:p.Tyr42Ser
ENST00000472742.6:c.*151A>C	ENSP00000509191.1:n.*151A>C
ENST00000474671.6:n.1889A>C
ENST00000477997.6:n.1683A>C
ENST00000486150.6:n.1989A>C
ENST00000692023.1:c.*1155A>C	ENSP00000509927.1:n.*1155A>C
ENST00000447146.7:c.734A>C MANE Select	ENSP00000391759.2:p.Tyr245Ser
ENST00000651767.1:c.734A>C	ENSP00000498362.1:p.Tyr245Ser
ENST00000218224.8:c.734A>C	ENSP00000218224.4:p.Tyr245Ser
ENST00000247140.8:c.449A>C	ENSP00000247140.4:p.Tyr150Ser
ENST00000376563.5:c.734A>C	ENSP00000365747.1:p.Tyr245Ser
ENST00000376566.8:c.449A>C	ENSP00000365750.4:p.Tyr150Ser
ENST00000396763.5:c.734A>C	ENSP00000379985.1:p.Tyr245Ser
ENST00000447146.6:c.734A>C	ENSP00000391759.2:p.Tyr245Ser
ENST00000456306.1:c.415A>C
ENST00000463529.4:n.1080A>C
ENST00000465859.2:n.748A>C
ENST00000470059.5:n.948A>C
ENST00000470062.5:n.706A>C
ENST00000473764.5:n.1306A>C
ENST00000474671.5:n.794A>C
ENST00000477997.5:n.815A>C
NM_001032381.1:c.734A>C	NP_001027553.1:p.Tyr245Ser
NM_001032382.1:c.734A>C	NP_001027554.1:p.Tyr245Ser
NM_001032383.1:c.734A>C	NP_001027555.1:p.Tyr245Ser
NM_001032384.1:c.734A>C	NP_001027556.1:p.Tyr245Ser
NM_001167989.1:c.731A>C	NP_001161461.1:p.Tyr244Ser
NM_001167990.1:c.710A>C	NP_001161462.1:p.Tyr237Ser
NM_001167992.1:c.434A>C	NP_001161464.1:p.Tyr145Ser
NM_005710.2:c.734A>C	NP_005701.1:p.Tyr245Ser
NM_144495.2:c.449A>C	NP_652766.1:p.Tyr150Ser
XM_005272571.3:c.731A>C	XP_005272628.1:p.Tyr244Ser
XM_005272572.3:c.449A>C	XP_005272629.1:p.Tyr150Ser
XM_011543884.1:c.734A>C	XP_011542186.1:p.Tyr245Ser
XM_005272572.4:c.449A>C	XP_005272629.1:p.Tyr150Ser
XM_011543884.2:c.734A>C	XP_011542186.1:p.Tyr245Ser
XM_017029207.1:c.731A>C	XP_016884696.1:p.Tyr244Ser
NM_001032381.2:c.734A>C	NP_001027553.1:p.Tyr245Ser
NM_001032382.2:c.734A>C MANE Select	NP_001027554.1:p.Tyr245Ser
NM_001032383.2:c.734A>C	NP_001027555.1:p.Tyr245Ser
NM_001167989.2:c.731A>C	NP_001161461.1:p.Tyr244Ser
NM_001167990.2:c.710A>C	NP_001161462.1:p.Tyr237Ser
NM_144495.3:c.449A>C	NP_652766.1:p.Tyr150Ser