LDH info

Canonical Allele Identifier: CA250048
Gene: PQBP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10982
dbSNP Id: rs606231196

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48902794dup , CM000685.2:g.48902794dup GRCh38
NC_000023.10:g.48760071dup , CM000685.1:g.48760071dup GRCh37
NC_000023.9:g.48645015dup NCBI36
NG_015967.1:g.9877dup
NG_015968.2:g.361dup
NG_034300.1:g.14170dup

Transcript Alleles

HGVS Amino-acid change
NM_001032381.1:c.640dup VV NP_001027553.1:p.Arg214ProfsTer13
NM_001032382.1:c.640dup VV NP_001027554.1:p.Arg214ProfsTer13
NM_001032383.1:c.640dup VV NP_001027555.1:p.Arg214ProfsTer13
NM_001032384.1:c.640dup VV NP_001027556.1:p.Arg214ProfsTer13
NM_001167989.1:c.637dup VV NP_001161461.1:p.Arg213ProfsTer13
NM_001167990.1:c.616dup VV NP_001161462.1:p.Arg206ProfsTer13
NM_001167992.1:c.340dup VV NP_001161464.1:p.Arg114ProfsTer13
NM_005710.2:c.640dup VV NP_005701.1:p.Arg214ProfsTer13
NM_144495.2:c.355dup VV NP_652766.1:p.Arg119ProfsTer13
XM_005272571.3:c.637dup XP_005272628.1:p.Arg213ProfsTer13
XM_005272572.3:c.355dup XP_005272629.1:p.Arg119ProfsTer13
XM_011543884.1:c.640dup XP_011542186.1:p.Arg214ProfsTer13
XM_005272572.4:c.355dup XP_005272629.1:p.Arg119ProfsTer13
XM_011543884.2:c.640dup XP_011542186.1:p.Arg214ProfsTer13
XM_017029207.1:c.637dup XP_016884696.1:p.Arg213ProfsTer13
ENST00000218224.8:c.640dup ENSP00000218224.4:p.Arg214ProfsTer13
ENST00000247140.8:c.355dup ENSP00000247140.4:p.Arg119ProfsTer13
ENST00000376563.5:c.640dup ENSP00000365747.1:p.Arg214ProfsTer13
ENST00000376566.8:c.355dup ENSP00000365750.4:p.Arg119ProfsTer13
ENST00000396763.5:c.640dup ENSP00000379985.1:p.Arg214ProfsTer13
ENST00000447146.6:c.640dup ENSP00000391759.2:p.Arg214ProfsTer13
ENST00000456306.1:n.321dup
ENST00000463529.4:n.854dup
ENST00000465859.2:n.654dup
ENST00000470059.5:n.854dup
ENST00000470062.5:n.612dup
ENST00000473764.5:n.1212dup
ENST00000474671.5:n.700dup
ENST00000477997.5:n.721dup