Canonical Allele Identifier: CA412891712

Gene: PQBP1

Linked Data

• MyVariant Identifiers: chrX:g.48760281T>C (hg19) ; chrX:g.48903004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48903004T>C , CM000685.2:g.48903004T>C	GRCh38
NC_000023.10:g.48760281T>C , CM000685.1:g.48760281T>C	GRCh37
NC_000023.9:g.48645225T>C	NCBI36
NG_015967.1:g.10087T>C
NG_015968.2:g.146A>G
NG_034300.1:g.13955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.718T>C	ENSP00000218224.4:p.Phe240Leu
ENST00000376563.6:c.718T>C	ENSP00000365747.1:p.Phe240Leu
ENST00000396763.6:c.718T>C	ENSP00000379985.1:p.Phe240Leu
ENST00000443648.6:c.718T>C	ENSP00000414861.2:p.Phe240Leu
ENST00000456306.2:c.109T>C	ENSP00000393013.2:p.Phe37Leu
ENST00000472742.6:c.*135T>C	ENSP00000509191.1:n.*135T>C
ENST00000474671.6:n.1873T>C
ENST00000477997.6:n.1667T>C
ENST00000486150.6:n.1973T>C
ENST00000692023.1:c.*1139T>C	ENSP00000509927.1:n.*1139T>C
ENST00000447146.7:c.718T>C MANE Select	ENSP00000391759.2:p.Phe240Leu
ENST00000651767.1:c.718T>C	ENSP00000498362.1:p.Phe240Leu
ENST00000218224.8:c.718T>C	ENSP00000218224.4:p.Phe240Leu
ENST00000247140.8:c.433T>C	ENSP00000247140.4:p.Phe145Leu
ENST00000376563.5:c.718T>C	ENSP00000365747.1:p.Phe240Leu
ENST00000376566.8:c.433T>C	ENSP00000365750.4:p.Phe145Leu
ENST00000396763.5:c.718T>C	ENSP00000379985.1:p.Phe240Leu
ENST00000447146.6:c.718T>C	ENSP00000391759.2:p.Phe240Leu
ENST00000456306.1:c.399T>C
ENST00000463529.4:n.1064T>C
ENST00000465859.2:n.732T>C
ENST00000470059.5:n.932T>C
ENST00000470062.5:n.690T>C
ENST00000473764.5:n.1290T>C
ENST00000474671.5:n.778T>C
ENST00000477997.5:n.799T>C
NM_001032381.1:c.718T>C	NP_001027553.1:p.Phe240Leu
NM_001032382.1:c.718T>C	NP_001027554.1:p.Phe240Leu
NM_001032383.1:c.718T>C	NP_001027555.1:p.Phe240Leu
NM_001032384.1:c.718T>C	NP_001027556.1:p.Phe240Leu
NM_001167989.1:c.715T>C	NP_001161461.1:p.Phe239Leu
NM_001167990.1:c.694T>C	NP_001161462.1:p.Phe232Leu
NM_001167992.1:c.418T>C	NP_001161464.1:p.Phe140Leu
NM_005710.2:c.718T>C	NP_005701.1:p.Phe240Leu
NM_144495.2:c.433T>C	NP_652766.1:p.Phe145Leu
XM_005272571.3:c.715T>C	XP_005272628.1:p.Phe239Leu
XM_005272572.3:c.433T>C	XP_005272629.1:p.Phe145Leu
XM_011543884.1:c.718T>C	XP_011542186.1:p.Phe240Leu
XM_005272572.4:c.433T>C	XP_005272629.1:p.Phe145Leu
XM_011543884.2:c.718T>C	XP_011542186.1:p.Phe240Leu
XM_017029207.1:c.715T>C	XP_016884696.1:p.Phe239Leu
NM_001032381.2:c.718T>C	NP_001027553.1:p.Phe240Leu
NM_001032382.2:c.718T>C MANE Select	NP_001027554.1:p.Phe240Leu
NM_001032383.2:c.718T>C	NP_001027555.1:p.Phe240Leu
NM_001167989.2:c.715T>C	NP_001161461.1:p.Phe239Leu
NM_001167990.2:c.694T>C	NP_001161462.1:p.Phe232Leu
NM_144495.3:c.433T>C	NP_652766.1:p.Phe145Leu