Canonical Allele Identifier: CA412889132
Community Standard Title: NM_001032382.2(PQBP1):c.292+1G>A
Gene: PQBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48902043G>A , CM000685.2:g.48902043G>A GRCh38
NC_000023.10:g.48759320G>A , CM000685.1:g.48759320G>A GRCh37
NC_000023.9:g.48644264G>A NCBI36
NG_015967.1:g.9126G>A
NG_015968.2:g.1107C>T
NG_034300.1:g.14916C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001032382.2:c.292+1G>A MANE Select NP_001027554.1:n.292+1G>A
ENST00000447146.7:c.292+1G>A MANE Select ENSP00000391759.2:n.292+1G>A
NM_001032381.1:c.292+1G>A NP_001027553.1:n.292+1G>A
NM_001032381.2:c.292+1G>A NP_001027553.1:n.292+1G>A
NM_001032382.1:c.292+1G>A NP_001027554.1:n.292+1G>A
NM_001032383.1:c.292+1G>A NP_001027555.1:n.292+1G>A
NM_001032383.2:c.292+1G>A NP_001027555.1:n.292+1G>A
NM_001032384.1:c.292+1G>A NP_001027556.1:n.292+1G>A
NM_001167989.1:c.292+1G>A NP_001161461.1:n.292+1G>A
NM_001167989.2:c.292+1G>A NP_001161461.1:n.292+1G>A
NM_001167990.1:c.268+1G>A NP_001161462.1:n.268+1G>A
NM_001167990.2:c.268+1G>A NP_001161462.1:n.268+1G>A
NM_001167992.1:c.201+92G>A NP_001161464.1:n.201+92G>A
NM_005710.2:c.292+1G>A NP_005701.1:n.292+1G>A
NM_144495.2:c.292+1G>A NP_652766.1:n.292+1G>A
NM_144495.3:c.292+1G>A NP_652766.1:n.292+1G>A
ENST00000218224.8:c.292+1G>A ENSP00000218224.4:n.292+1G>A
ENST00000218224.9:c.292+1G>A ENSP00000218224.4:n.292+1G>A
ENST00000247140.8:c.292+1G>A ENSP00000247140.4:n.292+1G>A
ENST00000376563.5:c.292+1G>A ENSP00000365747.1:n.292+1G>A
ENST00000376563.6:c.292+1G>A ENSP00000365747.1:n.292+1G>A
ENST00000376566.8:c.292+1G>A ENSP00000365750.4:n.292+1G>A
ENST00000396763.5:c.292+1G>A ENSP00000379985.1:n.292+1G>A
ENST00000396763.6:c.292+1G>A ENSP00000379985.1:n.292+1G>A
ENST00000443648.5:c.292+1G>A ENSP00000414861.1:n.292+1G>A
ENST00000443648.6:c.292+1G>A ENSP00000414861.2:n.292+1G>A
ENST00000447146.6:c.292+1G>A ENSP00000391759.2:n.292+1G>A
ENST00000456306.1:c.258+1G>A
ENST00000456306.2:c.-33+1G>A ENSP00000393013.2:n.-33+1G>A
ENST00000463529.4:n.292+1G>A
ENST00000465859.2:n.292+1G>A
ENST00000470059.5:n.292+1G>A
ENST00000470062.5:n.397+1G>A
ENST00000472742.5:n.461+1G>A
ENST00000472742.6:c.292+1G>A ENSP00000509191.1:n.292+1G>A
ENST00000473764.5:n.864+1G>A
ENST00000473764.6:n.718G>A
ENST00000474671.5:n.352+1G>A
ENST00000474671.6:n.1101+1G>A
ENST00000477997.5:n.373+1G>A
ENST00000477997.6:n.1027+1G>A
ENST00000486150.6:n.1012G>A
ENST00000651767.1:c.292+1G>A ENSP00000498362.1:n.292+1G>A
ENST00000692023.1:c.*499+1G>A ENSP00000509927.1:n.*499+1G>A
XM_005272571.3:c.292+1G>A XP_005272628.1:n.292+1G>A
XM_005272572.3:c.292+1G>A XP_005272629.1:n.292+1G>A
XM_005272572.4:c.292+1G>A XP_005272629.1:n.292+1G>A
XM_011543884.1:c.292+1G>A XP_011542186.1:n.292+1G>A
XM_011543884.2:c.292+1G>A XP_011542186.1:n.292+1G>A
XM_017029207.1:c.292+1G>A XP_016884696.1:n.292+1G>A