Canonical Allele Identifier: CA16006977

Gene: PQBP1 TIMM17B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48898097G>A , CM000685.2:g.48898097G>A	GRCh38
NC_000023.10:g.48755380G>A , CM000685.1:g.48755380G>A	GRCh37
NC_000023.9:g.48640324G>A	NCBI36
NG_015967.1:g.5186G>A
NG_015968.2:g.5053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.-413G>A (PQBP1)	ENSP00000218224.4:n.-413G>A
ENST00000376563.6:c.-19+83G>A (PQBP1)	ENSP00000365747.1:n.-19+83G>A
ENST00000443648.6:c.-19+15G>A (PQBP1)	ENSP00000414861.2:n.-19+15G>A
ENST00000472742.6:c.-19+4G>A (PQBP1)	ENSP00000509191.1:n.-19+4G>A
ENST00000473764.6:n.13G>A (PQBP1)
ENST00000474671.6:n.163+4G>A (PQBP1)
ENST00000477997.6:n.89+83G>A (PQBP1)
ENST00000486150.6:n.73+83G>A (PQBP1)
ENST00000692023.1:c.-413G>A (PQBP1)	ENSP00000509927.1:n.-413G>A
ENST00000447146.7:c.-19+15G>A (PQBP1) MANE Select	ENSP00000391759.2:n.-19+15G>A
ENST00000651767.1:c.-19+4G>A (PQBP1)	ENSP00000498362.1:n.-19+4G>A
ENST00000247140.8:c.-19+83G>A (PQBP1)	ENSP00000247140.4:n.-19+83G>A
ENST00000376563.5:c.-19+4G>A (PQBP1)	ENSP00000365747.1:n.-19+4G>A
ENST00000376566.8:c.-19+15G>A (PQBP1)	ENSP00000365750.4:n.-19+15G>A
ENST00000376582.7:c.-103C>T (TIMM17B)	ENSP00000365766.3:n.-103C>T
ENST00000396779.7:c.-103C>T (TIMM17B)	ENSP00000379999.3:n.-103C>T
ENST00000447146.6:c.-19+15G>A (PQBP1)	ENSP00000391759.2:n.-19+15G>A
ENST00000470062.5:n.87+15G>A (PQBP1)
ENST00000472742.5:n.151+4G>A (PQBP1)
ENST00000473764.5:n.160G>A (PQBP1)
ENST00000474671.5:n.42+15G>A (PQBP1)
ENST00000477997.5:n.63+83G>A (PQBP1)
ENST00000486150.5:n.152G>A (PQBP1)
NM_001032381.1:c.-19+83G>A (PQBP1)	NP_001027553.1:n.-19+83G>A
NM_001032382.1:c.-19+15G>A (PQBP1)	NP_001027554.1:n.-19+15G>A
NM_001032383.1:c.-19+4G>A (PQBP1)	NP_001027555.1:n.-19+4G>A
NM_001167947.2:c.-103C>T (TIMM17B)	NP_001161419.1:n.-103C>T
NM_001167989.1:c.-19+83G>A (PQBP1)	NP_001161461.1:n.-19+83G>A
NM_001167990.1:c.-19+83G>A (PQBP1)	NP_001161462.1:n.-19+83G>A
NM_005834.4:c.-103C>T (TIMM17B)	NP_005825.1:n.-103C>T
NM_144495.2:c.-19+15G>A (PQBP1)	NP_652766.1:n.-19+15G>A
XM_005272571.3:c.-19+15G>A (PQBP1)	XP_005272628.1:n.-19+15G>A
XM_005272572.3:c.-19+83G>A (PQBP1)	XP_005272629.1:n.-19+83G>A
XM_005272572.4:c.-19+83G>A (PQBP1)	XP_005272629.1:n.-19+83G>A
XM_017029207.1:c.-19+4G>A (PQBP1)	XP_016884696.1:n.-19+4G>A
NM_005834.5:c.-103C>T (TIMM17B)	NP_005825.1:n.-103C>T
NM_001032381.2:c.-19+83G>A (PQBP1)	NP_001027553.1:n.-19+83G>A
NM_001032382.2:c.-19+15G>A (PQBP1) MANE Select	NP_001027554.1:n.-19+15G>A
NM_001032383.2:c.-19+4G>A (PQBP1)	NP_001027555.1:n.-19+4G>A
NM_001167989.2:c.-19+83G>A (PQBP1)	NP_001161461.1:n.-19+83G>A
NM_001167990.2:c.-19+83G>A (PQBP1)	NP_001161462.1:n.-19+83G>A
NM_144495.3:c.-19+15G>A (PQBP1)	NP_652766.1:n.-19+15G>A