Canonical Allele Identifier: CA875941642
Gene: PQBP1 HGNC NCBI

Linked Data

dbSNP Id: rs1295571690
MyVariant Identifiers: chrX:g.48902703T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48902703T>C , CM000685.2:g.48902703T>C GRCh38
NC_000023.10:g.48759980T>C , CM000685.1:g.48759980T>C GRCh37
NC_000023.9:g.48644924T>C NCBI36
NG_015967.1:g.9786T>C
NG_015968.2:g.447A>G
NG_034300.1:g.14256A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000218224.9:c.578-29T>C ENSP00000218224.4:n.578-29T>C
ENST00000376563.6:c.578-29T>C ENSP00000365747.1:n.578-29T>C
ENST00000396763.6:c.578-29T>C ENSP00000379985.1:n.578-29T>C
ENST00000443648.6:c.578-29T>C ENSP00000414861.2:n.578-29T>C
ENST00000456306.2:c.-32-29T>C ENSP00000393013.2:n.-32-29T>C
ENST00000472742.6:c.445-29T>C ENSP00000509191.1:n.445-29T>C
ENST00000473764.6:n.1378T>C
ENST00000474671.6:n.1572T>C
ENST00000477997.6:n.1498T>C
ENST00000486150.6:n.1672T>C
ENST00000692023.1:c.*970T>C ENSP00000509927.1:n.*970T>C
ENST00000447146.7:c.578-29T>C MANE Select ENSP00000391759.2:n.578-29T>C
ENST00000651767.1:c.578-29T>C ENSP00000498362.1:n.578-29T>C
ENST00000218224.8:c.578-29T>C ENSP00000218224.4:n.578-29T>C
ENST00000247140.8:c.293-29T>C ENSP00000247140.4:n.293-29T>C
ENST00000376563.5:c.578-29T>C ENSP00000365747.1:n.578-29T>C
ENST00000376566.8:c.293-29T>C ENSP00000365750.4:n.293-29T>C
ENST00000396763.5:c.578-29T>C ENSP00000379985.1:n.578-29T>C
ENST00000443648.5:c.578-29T>C ENSP00000414861.1:n.578-29T>C
ENST00000447146.6:c.578-29T>C ENSP00000391759.2:n.578-29T>C
ENST00000456306.1:c.259-29T>C
ENST00000463529.4:n.763T>C
ENST00000465859.2:n.592-29T>C
ENST00000470059.5:n.763T>C
ENST00000470062.5:n.550-29T>C
ENST00000472742.5:n.614-29T>C
ENST00000473764.5:n.1150-29T>C
ENST00000474671.5:n.638-29T>C
ENST00000477997.5:n.659-29T>C
NM_001032381.1:c.578-29T>C NP_001027553.1:n.578-29T>C
NM_001032382.1:c.578-29T>C NP_001027554.1:n.578-29T>C
NM_001032383.1:c.578-29T>C NP_001027555.1:n.578-29T>C
NM_001032384.1:c.578-29T>C NP_001027556.1:n.578-29T>C
NM_001167989.1:c.578-32T>C NP_001161461.1:n.578-32T>C
NM_001167990.1:c.554-29T>C NP_001161462.1:n.554-29T>C
NM_001167992.1:c.278-29T>C NP_001161464.1:n.278-29T>C
NM_005710.2:c.578-29T>C NP_005701.1:n.578-29T>C
NM_144495.2:c.293-29T>C NP_652766.1:n.293-29T>C
XM_005272571.3:c.578-32T>C XP_005272628.1:n.578-32T>C
XM_005272572.3:c.293-29T>C XP_005272629.1:n.293-29T>C
XM_011543884.1:c.578-29T>C XP_011542186.1:n.578-29T>C
XM_005272572.4:c.293-29T>C XP_005272629.1:n.293-29T>C
XM_011543884.2:c.578-29T>C XP_011542186.1:n.578-29T>C
XM_017029207.1:c.578-32T>C XP_016884696.1:n.578-32T>C
NM_001032381.2:c.578-29T>C NP_001027553.1:n.578-29T>C
NM_001032382.2:c.578-29T>C MANE Select NP_001027554.1:n.578-29T>C
NM_001032383.2:c.578-29T>C NP_001027555.1:n.578-29T>C
NM_001167989.2:c.578-32T>C NP_001161461.1:n.578-32T>C
NM_001167990.2:c.554-29T>C NP_001161462.1:n.554-29T>C
NM_144495.3:c.293-29T>C NP_652766.1:n.293-29T>C