LDH info

Canonical Allele Identifier: CA181741

Identifiers and link-outs to other resources

ClinVar Variation Id: 178196
dbSNP Id: rs200797552

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178578078C>T , CM000664.2:g.178578078C>T GRCh38
NC_000002.11:g.179442805C>T , CM000664.1:g.179442805C>T GRCh37
NC_000002.10:g.179151051C>T NCBI36
NG_011618.3:g.257725G>A , LRG_391:g.257725G>A
NG_051363.1:g.60252C>T

Transcript Alleles

HGVS Amino-acid change
NM_001256850.1:c.63514G>A (TTN) VV NP_001243779.1:p.Glu21172Lys
NM_001267550.2:c.68437G>A (TTN) VV NP_001254479.2:p.Glu22813Lys
NM_003319.4:c.41242G>A (TTN) VV NP_003310.4:p.Glu13748Lys
NM_133378.4:c.60733G>A (TTN) VV NP_596869.4:p.Glu20245Lys
NM_133432.3:c.41617G>A (TTN) VV NP_597676.3:p.Glu13873Lys
NM_133437.4:c.41818G>A (TTN) VV NP_597681.4:p.Glu13940Lys
NR_038271.1:n.596+6629C>T (TTN-AS1)
NR_038272.1:n.2044-4494C>T (TTN-AS1)
XM_011511729.1:c.67534G>A (TTN) XP_011510031.1:p.Glu22512Lys
XM_011511730.1:c.41428G>A (TTN) XP_011510032.1:p.Glu13810Lys
XM_011511731.1:c.41287G>A (TTN) XP_011510033.1:p.Glu13763Lys
XM_017004819.1:c.67330G>A (TTN) XP_016860308.1:p.Glu22444Lys
XM_017004820.1:c.62728G>A (TTN) XP_016860309.1:p.Glu20910Lys
XM_017004821.1:c.62725G>A (TTN) XP_016860310.1:p.Glu20909Lys
XM_017004822.1:c.59767G>A (TTN) XP_016860311.1:p.Glu19923Lys
XM_017004823.1:c.41383G>A (TTN) XP_016860312.1:p.Glu13795Lys
XM_024453094.1:c.62878G>A (TTN) XP_024308862.1:p.Glu20960Lys
XM_024453095.1:c.62875G>A (TTN) XP_024308863.1:p.Glu20959Lys
XM_024453096.1:c.62308G>A (TTN) XP_024308864.1:p.Glu20770Lys
XM_024453097.1:c.59650G>A (TTN) XP_024308865.1:p.Glu19884Lys
XM_024453098.1:c.59569G>A (TTN) XP_024308866.1:p.Glu19857Lys
XM_024453099.1:c.41332G>A (TTN) XP_024308867.1:p.Glu13778Lys
XM_024453100.1:c.31186G>A (TTN) XP_024308868.1:p.Glu10396Lys
ENST00000342175.10:c.41818G>A ENSP00000340554.6:p.Glu13940Lys
ENST00000342992.10:c.60733G>A ENSP00000343764.6:p.Glu20245Lys
ENST00000359218.9:c.41617G>A ENSP00000352154.5:p.Glu13873Lys
ENST00000460472.6:c.41242G>A ENSP00000434586.1:p.Glu13748Lys
ENST00000589042.5:c.68437G>A ENSP00000467141.1:p.Glu22813Lys
ENST00000591111.5:c.63514G>A ENSP00000465570.1:p.Glu21172Lys
ENST00000615779.4:c.63514G>A ENSP00000483597.1:p.Glu21172Lys