LDH info

Canonical Allele Identifier: CA5852636
Gene: SMPD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371211
ClinVar RCV Id: RCV000411552

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391646del , CM000673.2:g.6391646del GRCh38
NC_000011.9:g.6412876del , CM000673.1:g.6412876del GRCh37
NC_000011.8:g.6369452del NCBI36
NG_011780.1:g.6222del

Transcript Alleles

HGVS Amino-acid change
NM_000543.4:c.581del VV NP_000534.3:p.Pro194GlnfsTer?
NM_001007593.2:c.578del VV NP_001007594.2:p.Pro193GlnfsTer?
XM_005253075.3:c.581del XP_005253132.1:p.Pro194GlnfsTer?
XM_011520303.1:c.581del XP_011518605.1:p.Pro194GlnfsTer?
XM_011520304.1:c.581del XP_011518606.1:p.Pro194GlnfsTer?
XR_930886.1:n.879del
NM_001318087.1:c.581del VV NP_001305016.1:p.Pro194GlnfsTer?
NM_001318088.1:c.-381del VV NP_001305017.1:p.=
NM_001365135.1:c.581del VV NP_001352064.1:p.Pro194GlnfsTer?
NR_027400.2:n.766del
NR_134502.1:n.623+143del
XM_011520304.2:c.581del XP_011518606.1:p.Pro194GlnfsTer?
XR_001747940.2:n.706del
XR_002957158.1:n.706del
NM_000543.5:c.581del VV MANE Preferred NP_000534.3:p.Pro194GlnfsTer?
NM_001007593.3:c.578del VV NP_001007594.2:p.Pro193GlnfsTer?
NM_001318087.2:c.581del VV NP_001305016.1:p.Pro194GlnfsTer?
NM_001318088.2:c.-381del VV NP_001305017.1:p.=
NM_001365135.2:c.581del VV NP_001352064.1:p.Pro194GlnfsTer?
NR_027400.3:n.706del
NR_134502.2:n.563+143del
ENST00000342245.8:c.581del ENSP00000340409.4:p.Pro194GlnfsTer?
ENST00000527275.5:c.578del ENSP00000435350.1:p.Pro193GlnfsTer?
ENST00000530395.1:c.-95-144del ENSP00000431479.1:p.=
ENST00000531303.5:c.438+143del ENSP00000432625.1:p.=
ENST00000533123.5:c.581del ENSP00000435950.1:p.Pro194GlnfsTer?
ENST00000533196.1:n.375-360del
ENST00000534405.5:c.581del ENSP00000434353.1:p.Pro194GlnfsTer?