LDH info

Canonical Allele Identifier: CA252521
Gene: SMPD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2990
dbSNP Id: rs387906289

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392061del , CM000673.2:g.6392061del GRCh38
NC_000011.9:g.6413291del , CM000673.1:g.6413291del GRCh37
NC_000011.8:g.6369867del NCBI36
NG_011780.1:g.6637del

Transcript Alleles

HGVS Amino-acid change
NM_000543.4:c.996del VV NP_000534.3:p.Phe333SerfsTer?
NM_001007593.2:c.993del VV NP_001007594.2:p.Phe332SerfsTer?
XM_005253075.3:c.996del XP_005253132.1:p.Phe333SerfsTer?
XM_011520303.1:c.996del XP_011518605.1:p.Phe333SerfsTer?
XM_011520304.1:c.996del XP_011518606.1:p.Phe333SerfsTer?
XR_930886.1:n.1294del
NM_001318087.1:c.996del VV NP_001305016.1:p.Phe333SerfsTer?
NM_001318088.1:c.35del VV NP_001305017.1:p.Pro12LeufsTer3
NM_001365135.1:c.996del VV NP_001352064.1:p.Phe333SerfsTer?
NR_027400.2:n.1181del
NR_134502.1:n.623+558del
XM_011520304.2:c.996del XP_011518606.1:p.Phe333SerfsTer?
XR_001747940.2:n.1121del
XR_002957158.1:n.1121del
NM_000543.5:c.996del VV MANE Preferred NP_000534.3:p.Phe333SerfsTer?
NM_001007593.3:c.993del VV NP_001007594.2:p.Phe332SerfsTer?
NM_001318087.2:c.996del VV NP_001305016.1:p.Phe333SerfsTer?
NM_001318088.2:c.35del VV NP_001305017.1:p.Pro12LeufsTer3
NM_001365135.2:c.996del VV NP_001352064.1:p.Phe333SerfsTer?
NR_027400.3:n.1121del
NR_134502.2:n.563+558del
ENST00000342245.8:c.996del ENSP00000340409.4:p.Phe333SerfsTer?
ENST00000526280.1:n.185del
ENST00000527275.5:c.993del ENSP00000435350.1:p.Phe332SerfsTer?
ENST00000531303.5:c.438+558del ENSP00000432625.1:p.=
ENST00000533123.5:c.996del ENSP00000435950.1:p.Phe333SerfsTer?
ENST00000534405.5:c.996del ENSP00000434353.1:p.Phe333SerfsTer?