LDH info

Canonical Allele Identifier: CA16041480
Gene: SMPD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370432
ClinVar RCV Id: RCV000409293

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391753C>T , CM000673.2:g.6391753C>T GRCh38
NC_000011.9:g.6412983C>T , CM000673.1:g.6412983C>T GRCh37
NC_000011.8:g.6369559C>T NCBI36
NG_011780.1:g.6329C>T

Transcript Alleles

HGVS Amino-acid change
NM_000543.4:c.688C>T VV NP_000534.3:p.Arg230Cys
NM_001007593.2:c.685C>T VV NP_001007594.2:p.Arg229Cys
XM_005253075.3:c.688C>T XP_005253132.1:p.Arg230Cys
XM_011520303.1:c.688C>T XP_011518605.1:p.Arg230Cys
XM_011520304.1:c.688C>T XP_011518606.1:p.Arg230Cys
XR_930886.1:n.986C>T
NM_001318087.1:c.688C>T VV NP_001305016.1:p.Arg230Cys
NM_001318088.1:c.-274C>T VV NP_001305017.1:p.=
NM_001365135.1:c.688C>T VV NP_001352064.1:p.Arg230Cys
NR_027400.2:n.873C>T
NR_134502.1:n.623+250C>T
XM_011520304.2:c.688C>T XP_011518606.1:p.Arg230Cys
XR_001747940.2:n.813C>T
XR_002957158.1:n.813C>T
NM_000543.5:c.688C>T VV MANE Preferred NP_000534.3:p.Arg230Cys
NM_001007593.3:c.685C>T VV NP_001007594.2:p.Arg229Cys
NM_001318087.2:c.688C>T VV NP_001305016.1:p.Arg230Cys
NM_001318088.2:c.-274C>T VV NP_001305017.1:p.=
NM_001365135.2:c.688C>T VV NP_001352064.1:p.Arg230Cys
NR_027400.3:n.813C>T
NR_134502.2:n.563+250C>T
ENST00000342245.8:c.688C>T ENSP00000340409.4:p.Arg230Cys
ENST00000527275.5:c.685C>T ENSP00000435350.1:p.Arg229Cys
ENST00000530395.1:c.-95-37C>T ENSP00000431479.1:p.=
ENST00000531303.5:c.438+250C>T ENSP00000432625.1:p.=
ENST00000533123.5:c.688C>T ENSP00000435950.1:p.Arg230Cys
ENST00000533196.1:n.375-253C>T
ENST00000534405.5:c.688C>T ENSP00000434353.1:p.Arg230Cys