Canonical Allele Identifier: CA10405978
Community Standard Title: NM_001032382.2(PQBP1):c.642-9C>A
Gene: PQBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48902919C>A , CM000685.2:g.48902919C>A GRCh38
NC_000023.10:g.48760196C>A , CM000685.1:g.48760196C>A GRCh37
NC_000023.9:g.48645140C>A NCBI36
NG_015967.1:g.10002C>A
NG_015968.2:g.231G>T
NG_034300.1:g.14040G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001032382.2:c.642-9C>A MANE Select NP_001027554.1:n.642-9C>A
ENST00000447146.7:c.642-9C>A MANE Select ENSP00000391759.2:n.642-9C>A
NM_001032381.1:c.642-9C>A NP_001027553.1:n.642-9C>A
NM_001032381.2:c.642-9C>A NP_001027553.1:n.642-9C>A
NM_001032382.1:c.642-9C>A NP_001027554.1:n.642-9C>A
NM_001032383.1:c.642-9C>A NP_001027555.1:n.642-9C>A
NM_001032383.2:c.642-9C>A NP_001027555.1:n.642-9C>A
NM_001032384.1:c.642-9C>A NP_001027556.1:n.642-9C>A
NM_001167989.1:c.639-9C>A NP_001161461.1:n.639-9C>A
NM_001167989.2:c.639-9C>A NP_001161461.1:n.639-9C>A
NM_001167990.1:c.618-9C>A NP_001161462.1:n.618-9C>A
NM_001167990.2:c.618-9C>A NP_001161462.1:n.618-9C>A
NM_001167992.1:c.342-9C>A NP_001161464.1:n.342-9C>A
NM_005710.2:c.642-9C>A NP_005701.1:n.642-9C>A
NM_144495.2:c.357-9C>A NP_652766.1:n.357-9C>A
NM_144495.3:c.357-9C>A NP_652766.1:n.357-9C>A
ENST00000218224.8:c.642-9C>A ENSP00000218224.4:n.642-9C>A
ENST00000218224.9:c.642-9C>A ENSP00000218224.4:n.642-9C>A
ENST00000247140.8:c.357-9C>A ENSP00000247140.4:n.357-9C>A
ENST00000376563.5:c.642-9C>A ENSP00000365747.1:n.642-9C>A
ENST00000376563.6:c.642-9C>A ENSP00000365747.1:n.642-9C>A
ENST00000376566.8:c.357-9C>A ENSP00000365750.4:n.357-9C>A
ENST00000396763.5:c.642-9C>A ENSP00000379985.1:n.642-9C>A
ENST00000396763.6:c.642-9C>A ENSP00000379985.1:n.642-9C>A
ENST00000443648.6:c.642-9C>A ENSP00000414861.2:n.642-9C>A
ENST00000447146.6:c.642-9C>A ENSP00000391759.2:n.642-9C>A
ENST00000456306.1:c.323-9C>A
ENST00000456306.2:c.33-9C>A ENSP00000393013.2:n.33-9C>A
ENST00000463529.4:n.979C>A
ENST00000465859.2:n.656-9C>A
ENST00000470059.5:n.856-9C>A
ENST00000470062.5:n.614-9C>A
ENST00000472742.6:c.*59-9C>A ENSP00000509191.1:n.*59-9C>A
ENST00000473764.5:n.1214-9C>A
ENST00000474671.5:n.702-9C>A
ENST00000474671.6:n.1788C>A
ENST00000477997.5:n.723-9C>A
ENST00000477997.6:n.1591-9C>A
ENST00000486150.6:n.1888C>A
ENST00000651767.1:c.642-9C>A ENSP00000498362.1:n.642-9C>A
ENST00000692023.1:c.*1063-9C>A ENSP00000509927.1:n.*1063-9C>A
XM_005272571.3:c.639-9C>A XP_005272628.1:n.639-9C>A
XM_005272572.3:c.357-9C>A XP_005272629.1:n.357-9C>A
XM_005272572.4:c.357-9C>A XP_005272629.1:n.357-9C>A
XM_011543884.1:c.642-9C>A XP_011542186.1:n.642-9C>A
XM_011543884.2:c.642-9C>A XP_011542186.1:n.642-9C>A
XM_017029207.1:c.639-9C>A XP_016884696.1:n.639-9C>A