Canonical Allele Identifier: CA121289
Gene: PQBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10985
ClinVar RCV Id: RCV000011732
dbSNP Id: rs121917899
MyVariant Identifiers: chrX:g.48759221A>G (hg19) chrX:g.48901944A>G (hg38)
PubMed: PMID:6711604 PMID:15782410 PMID:16740914 PMID:20410308
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48901944A>G , CM000685.2:g.48901944A>G GRCh38
NC_000023.10:g.48759221A>G , CM000685.1:g.48759221A>G GRCh37
NC_000023.9:g.48644165A>G NCBI36
NG_015967.1:g.9027A>G
NG_015968.2:g.1206T>C
NG_034300.1:g.15015T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218224.9:c.194A>G ENSP00000218224.4:p.Tyr65Cys
ENST00000376563.6:c.194A>G ENSP00000365747.1:p.Tyr65Cys
ENST00000396763.6:c.194A>G ENSP00000379985.1:p.Tyr65Cys
ENST00000443648.6:c.194A>G ENSP00000414861.2:p.Tyr65Cys
ENST00000456306.2:c.-131A>G ENSP00000393013.2:n.-131A>G
ENST00000472742.6:c.194A>G ENSP00000509191.1:p.Tyr65Cys
ENST00000473764.6:n.619A>G
ENST00000474671.6:n.1003A>G
ENST00000477997.6:n.929A>G
ENST00000486150.6:n.913A>G
ENST00000692023.1:c.*401A>G ENSP00000509927.1:n.*401A>G
ENST00000447146.7:c.194A>G MANE Select ENSP00000391759.2:p.Tyr65Cys
ENST00000651767.1:c.194A>G ENSP00000498362.1:p.Tyr65Cys
ENST00000218224.8:c.194A>G ENSP00000218224.4:p.Tyr65Cys
ENST00000247140.8:c.194A>G ENSP00000247140.4:p.Tyr65Cys
ENST00000376563.5:c.194A>G ENSP00000365747.1:p.Tyr65Cys
ENST00000376566.8:c.194A>G ENSP00000365750.4:p.Tyr65Cys
ENST00000396763.5:c.194A>G ENSP00000379985.1:p.Tyr65Cys
ENST00000443648.5:c.194A>G ENSP00000414861.1:p.Tyr65Cys
ENST00000447146.6:c.194A>G ENSP00000391759.2:p.Tyr65Cys
ENST00000456306.1:c.160A>G
ENST00000463529.4:n.194A>G
ENST00000465859.2:n.194A>G
ENST00000470059.5:n.194A>G
ENST00000470062.5:n.299A>G
ENST00000472742.5:n.363A>G
ENST00000473764.5:n.766A>G
ENST00000474671.5:n.254A>G
ENST00000477997.5:n.275A>G
NM_001032381.1:c.194A>G NP_001027553.1:p.Tyr65Cys
NM_001032382.1:c.194A>G NP_001027554.1:p.Tyr65Cys
NM_001032383.1:c.194A>G NP_001027555.1:p.Tyr65Cys
NM_001032384.1:c.194A>G NP_001027556.1:p.Tyr65Cys
NM_001167989.1:c.194A>G NP_001161461.1:p.Tyr65Cys
NM_001167990.1:c.170A>G NP_001161462.1:p.Tyr57Cys
NM_001167992.1:c.194A>G NP_001161464.1:p.Tyr65Cys
NM_005710.2:c.194A>G NP_005701.1:p.Tyr65Cys
NM_144495.2:c.194A>G NP_652766.1:p.Tyr65Cys
XM_005272571.3:c.194A>G XP_005272628.1:p.Tyr65Cys
XM_005272572.3:c.194A>G XP_005272629.1:p.Tyr65Cys
XM_011543884.1:c.194A>G XP_011542186.1:p.Tyr65Cys
XM_005272572.4:c.194A>G XP_005272629.1:p.Tyr65Cys
XM_011543884.2:c.194A>G XP_011542186.1:p.Tyr65Cys
XM_017029207.1:c.194A>G XP_016884696.1:p.Tyr65Cys
NM_001032381.2:c.194A>G NP_001027553.1:p.Tyr65Cys
NM_001032382.2:c.194A>G MANE Select NP_001027554.1:p.Tyr65Cys
NM_001032383.2:c.194A>G NP_001027555.1:p.Tyr65Cys
NM_001167989.2:c.194A>G NP_001161461.1:p.Tyr65Cys
NM_001167990.2:c.170A>G NP_001161462.1:p.Tyr57Cys
NM_144495.3:c.194A>G NP_652766.1:p.Tyr65Cys
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