Canonical Allele Identifier: CA412891268

Gene: PQBP1

Linked Data

• MyVariant Identifiers: chrX:g.48760053T>G (hg19) ; chrX:g.48902776T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902776T>G , CM000685.2:g.48902776T>G	GRCh38
NC_000023.10:g.48760053T>G , CM000685.1:g.48760053T>G	GRCh37
NC_000023.9:g.48644997T>G	NCBI36
NG_015967.1:g.9859T>G
NG_015968.2:g.374A>C
NG_034300.1:g.14183A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.622T>G	ENSP00000218224.4:p.Ser208Ala
ENST00000376563.6:c.622T>G	ENSP00000365747.1:p.Ser208Ala
ENST00000396763.6:c.622T>G	ENSP00000379985.1:p.Ser208Ala
ENST00000443648.6:c.622T>G	ENSP00000414861.2:p.Ser208Ala
ENST00000456306.2:c.13T>G	ENSP00000393013.2:p.Ser5Ala
ENST00000472742.6:c.*39T>G	ENSP00000509191.1:n.*39T>G
ENST00000473764.6:n.1451T>G
ENST00000474671.6:n.1645T>G
ENST00000477997.6:n.1571T>G
ENST00000486150.6:n.1745T>G
ENST00000692023.1:c.*1043T>G	ENSP00000509927.1:n.*1043T>G
ENST00000447146.7:c.622T>G MANE Select	ENSP00000391759.2:p.Ser208Ala
ENST00000651767.1:c.622T>G	ENSP00000498362.1:p.Ser208Ala
ENST00000218224.8:c.622T>G	ENSP00000218224.4:p.Ser208Ala
ENST00000247140.8:c.337T>G	ENSP00000247140.4:p.Ser113Ala
ENST00000376563.5:c.622T>G	ENSP00000365747.1:p.Ser208Ala
ENST00000376566.8:c.337T>G	ENSP00000365750.4:p.Ser113Ala
ENST00000396763.5:c.622T>G	ENSP00000379985.1:p.Ser208Ala
ENST00000443648.5:c.622T>G	ENSP00000414861.1:p.Ser208Ala
ENST00000447146.6:c.622T>G	ENSP00000391759.2:p.Ser208Ala
ENST00000456306.1:c.303T>G
ENST00000463529.4:n.836T>G
ENST00000465859.2:n.636T>G
ENST00000470059.5:n.836T>G
ENST00000470062.5:n.594T>G
ENST00000472742.5:n.658T>G
ENST00000473764.5:n.1194T>G
ENST00000474671.5:n.682T>G
ENST00000477997.5:n.703T>G
NM_001032381.1:c.622T>G	NP_001027553.1:p.Ser208Ala
NM_001032382.1:c.622T>G	NP_001027554.1:p.Ser208Ala
NM_001032383.1:c.622T>G	NP_001027555.1:p.Ser208Ala
NM_001032384.1:c.622T>G	NP_001027556.1:p.Ser208Ala
NM_001167989.1:c.619T>G	NP_001161461.1:p.Ser207Ala
NM_001167990.1:c.598T>G	NP_001161462.1:p.Ser200Ala
NM_001167992.1:c.322T>G	NP_001161464.1:p.Ser108Ala
NM_005710.2:c.622T>G	NP_005701.1:p.Ser208Ala
NM_144495.2:c.337T>G	NP_652766.1:p.Ser113Ala
XM_005272571.3:c.619T>G	XP_005272628.1:p.Ser207Ala
XM_005272572.3:c.337T>G	XP_005272629.1:p.Ser113Ala
XM_011543884.1:c.622T>G	XP_011542186.1:p.Ser208Ala
XM_005272572.4:c.337T>G	XP_005272629.1:p.Ser113Ala
XM_011543884.2:c.622T>G	XP_011542186.1:p.Ser208Ala
XM_017029207.1:c.619T>G	XP_016884696.1:p.Ser207Ala
NM_001032381.2:c.622T>G	NP_001027553.1:p.Ser208Ala
NM_001032382.2:c.622T>G MANE Select	NP_001027554.1:p.Ser208Ala
NM_001032383.2:c.622T>G	NP_001027555.1:p.Ser208Ala
NM_001167989.2:c.619T>G	NP_001161461.1:p.Ser207Ala
NM_001167990.2:c.598T>G	NP_001161462.1:p.Ser200Ala
NM_144495.3:c.337T>G	NP_652766.1:p.Ser113Ala