Canonical Allele Identifier: CA516031797
Gene: PQBP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48760346C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48903069C>G , CM000685.2:g.48903069C>G GRCh38
NC_000023.10:g.48760346C>G , CM000685.1:g.48760346C>G GRCh37
NC_000023.9:g.48645290C>G NCBI36
NG_015967.1:g.10152C>G
NG_015968.2:g.81G>C
NG_034300.1:g.13890G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218224.9:c.783C>G ENSP00000218224.4:p.Thr261=
ENST00000376563.6:c.783C>G ENSP00000365747.1:p.Thr261=
ENST00000396763.6:c.783C>G ENSP00000379985.1:p.Thr261=
ENST00000443648.6:c.783C>G ENSP00000414861.2:p.Thr261=
ENST00000456306.2:c.174C>G ENSP00000393013.2:p.Thr58=
ENST00000472742.6:c.*200C>G ENSP00000509191.1:n.*200C>G
ENST00000474671.6:n.1938C>G
ENST00000477997.6:n.1732C>G
ENST00000486150.6:n.2038C>G
ENST00000692023.1:c.*1204C>G ENSP00000509927.1:n.*1204C>G
ENST00000447146.7:c.783C>G MANE Select ENSP00000391759.2:p.Thr261=
ENST00000651767.1:c.783C>G ENSP00000498362.1:p.Thr261=
ENST00000218224.8:c.783C>G ENSP00000218224.4:p.Thr261=
ENST00000247140.8:c.498C>G ENSP00000247140.4:p.Thr166=
ENST00000376563.5:c.783C>G ENSP00000365747.1:p.Thr261=
ENST00000376566.8:c.498C>G ENSP00000365750.4:p.Thr166=
ENST00000396763.5:c.783C>G ENSP00000379985.1:p.Thr261=
ENST00000447146.6:c.783C>G ENSP00000391759.2:p.Thr261=
ENST00000463529.4:n.1129C>G
ENST00000465859.2:n.797C>G
ENST00000470059.5:n.997C>G
ENST00000470062.5:n.755C>G
ENST00000473764.5:n.1355C>G
ENST00000474671.5:n.843C>G
ENST00000477997.5:n.864C>G
NM_001032381.1:c.783C>G NP_001027553.1:p.Thr261=
NM_001032382.1:c.783C>G NP_001027554.1:p.Thr261=
NM_001032383.1:c.783C>G NP_001027555.1:p.Thr261=
NM_001032384.1:c.783C>G NP_001027556.1:p.Thr261=
NM_001167989.1:c.780C>G NP_001161461.1:p.Thr260=
NM_001167990.1:c.759C>G NP_001161462.1:p.Thr253=
NM_001167992.1:c.483C>G NP_001161464.1:p.Thr161=
NM_005710.2:c.783C>G NP_005701.1:p.Thr261=
NM_144495.2:c.498C>G NP_652766.1:p.Thr166=
XM_005272571.3:c.780C>G XP_005272628.1:p.Thr260=
XM_005272572.3:c.498C>G XP_005272629.1:p.Thr166=
XM_011543884.1:c.783C>G XP_011542186.1:p.Thr261=
XM_005272572.4:c.498C>G XP_005272629.1:p.Thr166=
XM_011543884.2:c.783C>G XP_011542186.1:p.Thr261=
XM_017029207.1:c.780C>G XP_016884696.1:p.Thr260=
NM_001032381.2:c.783C>G NP_001027553.1:p.Thr261=
NM_001032382.2:c.783C>G MANE Select NP_001027554.1:p.Thr261=
NM_001032383.2:c.783C>G NP_001027555.1:p.Thr261=
NM_001167989.2:c.780C>G NP_001161461.1:p.Thr260=
NM_001167990.2:c.759C>G NP_001161462.1:p.Thr253=
NM_144495.3:c.498C>G NP_652766.1:p.Thr166=