Canonical Allele Identifier: CA10405998
Community Standard Title: NM_001032382.2(PQBP1):c.*3C>T
Gene: PQBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48903087C>T , CM000685.2:g.48903087C>T GRCh38
NC_000023.10:g.48760364C>T , CM000685.1:g.48760364C>T GRCh37
NC_000023.9:g.48645308C>T NCBI36
NG_015967.1:g.10170C>T
NG_015968.2:g.63G>A
NG_034300.1:g.13872G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001032382.2:c.*3C>T MANE Select NP_001027554.1:n.*3C>T
ENST00000447146.7:c.*3C>T MANE Select ENSP00000391759.2:n.*3C>T
NM_001032381.1:c.*3C>T NP_001027553.1:n.*3C>T
NM_001032381.2:c.*3C>T NP_001027553.1:n.*3C>T
NM_001032382.1:c.*3C>T NP_001027554.1:n.*3C>T
NM_001032383.1:c.*3C>T NP_001027555.1:n.*3C>T
NM_001032383.2:c.*3C>T NP_001027555.1:n.*3C>T
NM_001032384.1:c.*3C>T NP_001027556.1:n.*3C>T
NM_001167989.1:c.*3C>T NP_001161461.1:n.*3C>T
NM_001167989.2:c.*3C>T NP_001161461.1:n.*3C>T
NM_001167990.1:c.*3C>T NP_001161462.1:n.*3C>T
NM_001167990.2:c.*3C>T NP_001161462.1:n.*3C>T
NM_001167992.1:c.*3C>T NP_001161464.1:n.*3C>T
NM_005710.2:c.*3C>T NP_005701.1:n.*3C>T
NM_144495.2:c.*3C>T NP_652766.1:n.*3C>T
NM_144495.3:c.*3C>T NP_652766.1:n.*3C>T
ENST00000218224.8:c.*3C>T ENSP00000218224.4:n.*3C>T
ENST00000218224.9:c.*3C>T ENSP00000218224.4:n.*3C>T
ENST00000247140.8:c.*3C>T ENSP00000247140.4:n.*3C>T
ENST00000376563.5:c.*3C>T ENSP00000365747.1:n.*3C>T
ENST00000376563.6:c.*3C>T ENSP00000365747.1:n.*3C>T
ENST00000376566.8:c.*3C>T ENSP00000365750.4:n.*3C>T
ENST00000396763.5:c.*3C>T ENSP00000379985.1:n.*3C>T
ENST00000396763.6:c.*3C>T ENSP00000379985.1:n.*3C>T
ENST00000443648.6:c.*3C>T ENSP00000414861.2:n.*3C>T
ENST00000447146.6:c.*3C>T ENSP00000391759.2:n.*3C>T
ENST00000456306.2:c.*3C>T ENSP00000393013.2:n.*3C>T
ENST00000470062.5:n.773C>T
ENST00000473764.5:n.1373C>T
ENST00000474671.5:n.861C>T
ENST00000474671.6:n.1956C>T
ENST00000477997.5:n.882C>T
ENST00000477997.6:n.1750C>T
ENST00000486150.6:n.2056C>T
ENST00000651767.1:c.*3C>T ENSP00000498362.1:n.*3C>T
ENST00000692023.1:c.*1222C>T ENSP00000509927.1:n.*1222C>T
XM_005272571.3:c.*3C>T XP_005272628.1:n.*3C>T
XM_005272572.3:c.*3C>T XP_005272629.1:n.*3C>T
XM_005272572.4:c.*3C>T XP_005272629.1:n.*3C>T
XM_011543884.1:c.*3C>T XP_011542186.1:n.*3C>T
XM_011543884.2:c.*3C>T XP_011542186.1:n.*3C>T
XM_017029207.1:c.*3C>T XP_016884696.1:n.*3C>T