Canonical Allele Identifier: CA516031702
Gene: PQBP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48760274G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48902997G>C , CM000685.2:g.48902997G>C GRCh38
NC_000023.10:g.48760274G>C , CM000685.1:g.48760274G>C GRCh37
NC_000023.9:g.48645218G>C NCBI36
NG_015967.1:g.10080G>C
NG_015968.2:g.153C>G
NG_034300.1:g.13962C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218224.9:c.711G>C ENSP00000218224.4:p.Gly237=
ENST00000376563.6:c.711G>C ENSP00000365747.1:p.Gly237=
ENST00000396763.6:c.711G>C ENSP00000379985.1:p.Gly237=
ENST00000443648.6:c.711G>C ENSP00000414861.2:p.Gly237=
ENST00000456306.2:c.102G>C ENSP00000393013.2:p.Gly34=
ENST00000472742.6:c.*128G>C ENSP00000509191.1:n.*128G>C
ENST00000474671.6:n.1866G>C
ENST00000477997.6:n.1660G>C
ENST00000486150.6:n.1966G>C
ENST00000692023.1:c.*1132G>C ENSP00000509927.1:n.*1132G>C
ENST00000447146.7:c.711G>C MANE Select ENSP00000391759.2:p.Gly237=
ENST00000651767.1:c.711G>C ENSP00000498362.1:p.Gly237=
ENST00000218224.8:c.711G>C ENSP00000218224.4:p.Gly237=
ENST00000247140.8:c.426G>C ENSP00000247140.4:p.Gly142=
ENST00000376563.5:c.711G>C ENSP00000365747.1:p.Gly237=
ENST00000376566.8:c.426G>C ENSP00000365750.4:p.Gly142=
ENST00000396763.5:c.711G>C ENSP00000379985.1:p.Gly237=
ENST00000447146.6:c.711G>C ENSP00000391759.2:p.Gly237=
ENST00000456306.1:c.392G>C
ENST00000463529.4:n.1057G>C
ENST00000465859.2:n.725G>C
ENST00000470059.5:n.925G>C
ENST00000470062.5:n.683G>C
ENST00000473764.5:n.1283G>C
ENST00000474671.5:n.771G>C
ENST00000477997.5:n.792G>C
NM_001032381.1:c.711G>C NP_001027553.1:p.Gly237=
NM_001032382.1:c.711G>C NP_001027554.1:p.Gly237=
NM_001032383.1:c.711G>C NP_001027555.1:p.Gly237=
NM_001032384.1:c.711G>C NP_001027556.1:p.Gly237=
NM_001167989.1:c.708G>C NP_001161461.1:p.Gly236=
NM_001167990.1:c.687G>C NP_001161462.1:p.Gly229=
NM_001167992.1:c.411G>C NP_001161464.1:p.Gly137=
NM_005710.2:c.711G>C NP_005701.1:p.Gly237=
NM_144495.2:c.426G>C NP_652766.1:p.Gly142=
XM_005272571.3:c.708G>C XP_005272628.1:p.Gly236=
XM_005272572.3:c.426G>C XP_005272629.1:p.Gly142=
XM_011543884.1:c.711G>C XP_011542186.1:p.Gly237=
XM_005272572.4:c.426G>C XP_005272629.1:p.Gly142=
XM_011543884.2:c.711G>C XP_011542186.1:p.Gly237=
XM_017029207.1:c.708G>C XP_016884696.1:p.Gly236=
NM_001032381.2:c.711G>C NP_001027553.1:p.Gly237=
NM_001032382.2:c.711G>C MANE Select NP_001027554.1:p.Gly237=
NM_001032383.2:c.711G>C NP_001027555.1:p.Gly237=
NM_001167989.2:c.708G>C NP_001161461.1:p.Gly236=
NM_001167990.2:c.687G>C NP_001161462.1:p.Gly229=
NM_144495.3:c.426G>C NP_652766.1:p.Gly142=