Canonical Allele Identifier: CA641902137

Gene: PQBP1

Linked Data

• dbSNP Id: rs1557041604
• gnomAD v2: X-48759848-C-T
• gnomAD v3: X-48902571-C-T
• gnomAD v4: X-48902571-C-T
• MyVariant Identifiers: chrX:g.48759848C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48902571C>T , CM000685.2:g.48902571C>T	GRCh38
NC_000023.10:g.48759848C>T , CM000685.1:g.48759848C>T	GRCh37
NC_000023.9:g.48644792C>T	NCBI36
NG_015967.1:g.9654C>T
NG_015968.2:g.579G>A
NG_034300.1:g.14388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218224.9:c.577+54C>T	ENSP00000218224.4:n.577+54C>T
ENST00000376563.6:c.577+54C>T	ENSP00000365747.1:n.577+54C>T
ENST00000396763.6:c.577+54C>T	ENSP00000379985.1:n.577+54C>T
ENST00000443648.6:c.577+54C>T	ENSP00000414861.2:n.577+54C>T
ENST00000456306.2:c.-32-161C>T	ENSP00000393013.2:n.-32-161C>T
ENST00000472742.6:c.445-161C>T	ENSP00000509191.1:n.445-161C>T
ENST00000473764.6:n.1246C>T
ENST00000474671.6:n.1440C>T
ENST00000477997.6:n.1366C>T
ENST00000486150.6:n.1540C>T
ENST00000692023.1:c.*838C>T	ENSP00000509927.1:n.*838C>T
ENST00000447146.7:c.577+54C>T MANE Select	ENSP00000391759.2:n.577+54C>T
ENST00000651767.1:c.577+54C>T	ENSP00000498362.1:n.577+54C>T
ENST00000218224.8:c.577+54C>T	ENSP00000218224.4:n.577+54C>T
ENST00000247140.8:c.293-161C>T	ENSP00000247140.4:n.293-161C>T
ENST00000376563.5:c.577+54C>T	ENSP00000365747.1:n.577+54C>T
ENST00000376566.8:c.293-161C>T	ENSP00000365750.4:n.293-161C>T
ENST00000396763.5:c.577+54C>T	ENSP00000379985.1:n.577+54C>T
ENST00000443648.5:c.577+54C>T	ENSP00000414861.1:n.577+54C>T
ENST00000447146.6:c.577+54C>T	ENSP00000391759.2:n.577+54C>T
ENST00000456306.1:c.259-161C>T
ENST00000463529.4:n.631C>T
ENST00000465859.2:n.591+54C>T
ENST00000470059.5:n.631C>T
ENST00000470062.5:n.550-161C>T
ENST00000472742.5:n.614-161C>T
ENST00000473764.5:n.1149+54C>T
ENST00000474671.5:n.637+54C>T
ENST00000477997.5:n.658+54C>T
NM_001032381.1:c.577+54C>T	NP_001027553.1:n.577+54C>T
NM_001032382.1:c.577+54C>T	NP_001027554.1:n.577+54C>T
NM_001032383.1:c.577+54C>T	NP_001027555.1:n.577+54C>T
NM_001032384.1:c.577+54C>T	NP_001027556.1:n.577+54C>T
NM_001167989.1:c.577+54C>T	NP_001161461.1:n.577+54C>T
NM_001167990.1:c.553+54C>T	NP_001161462.1:n.553+54C>T
NM_001167992.1:c.277+54C>T	NP_001161464.1:n.277+54C>T
NM_005710.2:c.577+54C>T	NP_005701.1:n.577+54C>T
NM_144495.2:c.293-161C>T	NP_652766.1:n.293-161C>T
XM_005272571.3:c.577+54C>T	XP_005272628.1:n.577+54C>T
XM_005272572.3:c.293-161C>T	XP_005272629.1:n.293-161C>T
XM_011543884.1:c.577+54C>T	XP_011542186.1:n.577+54C>T
XM_005272572.4:c.293-161C>T	XP_005272629.1:n.293-161C>T
XM_011543884.2:c.577+54C>T	XP_011542186.1:n.577+54C>T
XM_017029207.1:c.577+54C>T	XP_016884696.1:n.577+54C>T
NM_001032381.2:c.577+54C>T	NP_001027553.1:n.577+54C>T
NM_001032382.2:c.577+54C>T MANE Select	NP_001027554.1:n.577+54C>T
NM_001032383.2:c.577+54C>T	NP_001027555.1:n.577+54C>T
NM_001167989.2:c.577+54C>T	NP_001161461.1:n.577+54C>T
NM_001167990.2:c.553+54C>T	NP_001161462.1:n.553+54C>T
NM_144495.3:c.293-161C>T	NP_652766.1:n.293-161C>T