Canonical Allele Identifier: CA10405965

Gene: PQBP1

Linked Data

• dbSNP Id: rs376409351
• ExAC: X:48760098 G / C
• gnomAD v2: X-48760098-G-C
• gnomAD v3: X-48902821-G-C
• gnomAD v4: X-48902821-G-C
• MyVariant Identifiers: chrX:g.48760098G>C (hg19) ; chrX:g.48902821G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902821G>C , CM000685.2:g.48902821G>C	GRCh38
NC_000023.10:g.48760098G>C , CM000685.1:g.48760098G>C	GRCh37
NC_000023.9:g.48645042G>C	NCBI36
NG_015967.1:g.9904G>C
NG_015968.2:g.329C>G
NG_034300.1:g.14138C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.641+26G>C	ENSP00000218224.4:n.641+26G>C
ENST00000376563.6:c.641+26G>C	ENSP00000365747.1:n.641+26G>C
ENST00000396763.6:c.641+26G>C	ENSP00000379985.1:n.641+26G>C
ENST00000443648.6:c.641+26G>C	ENSP00000414861.2:n.641+26G>C
ENST00000456306.2:c.32+26G>C	ENSP00000393013.2:n.32+26G>C
ENST00000472742.6:c.*58+26G>C	ENSP00000509191.1:n.*58+26G>C
ENST00000473764.6:n.1496G>C
ENST00000474671.6:n.1690G>C
ENST00000477997.6:n.1590+26G>C
ENST00000486150.6:n.1790G>C
ENST00000692023.1:c.*1062+26G>C	ENSP00000509927.1:n.*1062+26G>C
ENST00000447146.7:c.641+26G>C MANE Select	ENSP00000391759.2:n.641+26G>C
ENST00000651767.1:c.641+26G>C	ENSP00000498362.1:n.641+26G>C
ENST00000218224.8:c.641+26G>C	ENSP00000218224.4:n.641+26G>C
ENST00000247140.8:c.356+26G>C	ENSP00000247140.4:n.356+26G>C
ENST00000376563.5:c.641+26G>C	ENSP00000365747.1:n.641+26G>C
ENST00000376566.8:c.356+26G>C	ENSP00000365750.4:n.356+26G>C
ENST00000396763.5:c.641+26G>C	ENSP00000379985.1:n.641+26G>C
ENST00000447146.6:c.641+26G>C	ENSP00000391759.2:n.641+26G>C
ENST00000456306.1:c.322+26G>C
ENST00000463529.4:n.881G>C
ENST00000465859.2:n.655+26G>C
ENST00000470059.5:n.855+26G>C
ENST00000470062.5:n.613+26G>C
ENST00000473764.5:n.1213+26G>C
ENST00000474671.5:n.701+26G>C
ENST00000477997.5:n.722+26G>C
NM_001032381.1:c.641+26G>C	NP_001027553.1:n.641+26G>C
NM_001032382.1:c.641+26G>C	NP_001027554.1:n.641+26G>C
NM_001032383.1:c.641+26G>C	NP_001027555.1:n.641+26G>C
NM_001032384.1:c.641+26G>C	NP_001027556.1:n.641+26G>C
NM_001167989.1:c.638+26G>C	NP_001161461.1:n.638+26G>C
NM_001167990.1:c.617+26G>C	NP_001161462.1:n.617+26G>C
NM_001167992.1:c.341+26G>C	NP_001161464.1:n.341+26G>C
NM_005710.2:c.641+26G>C	NP_005701.1:n.641+26G>C
NM_144495.2:c.356+26G>C	NP_652766.1:n.356+26G>C
XM_005272571.3:c.638+26G>C	XP_005272628.1:n.638+26G>C
XM_005272572.3:c.356+26G>C	XP_005272629.1:n.356+26G>C
XM_011543884.1:c.641+26G>C	XP_011542186.1:n.641+26G>C
XM_005272572.4:c.356+26G>C	XP_005272629.1:n.356+26G>C
XM_011543884.2:c.641+26G>C	XP_011542186.1:n.641+26G>C
XM_017029207.1:c.638+26G>C	XP_016884696.1:n.638+26G>C
NM_001032381.2:c.641+26G>C	NP_001027553.1:n.641+26G>C
NM_001032382.2:c.641+26G>C MANE Select	NP_001027554.1:n.641+26G>C
NM_001032383.2:c.641+26G>C	NP_001027555.1:n.641+26G>C
NM_001167989.2:c.638+26G>C	NP_001161461.1:n.638+26G>C
NM_001167990.2:c.617+26G>C	NP_001161462.1:n.617+26G>C
NM_144495.3:c.356+26G>C	NP_652766.1:n.356+26G>C