LDH info

Canonical Allele Identifier: CA011572
Gene: MUTYH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5298
ClinVar RCV Id: RCV000005619
dbSNP Id: rs121908382

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331530G>A , CM000663.2:g.45331530G>A GRCh38
NC_000001.10:g.45797202G>A , CM000663.1:g.45797202G>A GRCh37
NC_000001.9:g.45569789G>A NCBI36
NG_008189.1:g.13941C>T , LRG_220:g.13941C>T

Transcript Alleles

HGVS Amino-acid change
NM_001048171.1:c.1171C>T VV NP_001041636.1:p.Pro391Ser
NM_001048172.1:c.1132C>T VV NP_001041637.1:p.Pro378Ser
NM_001048173.1:c.1129C>T VV NP_001041638.1:p.Pro377Ser
NM_001048174.1:c.1129C>T VV NP_001041639.1:p.Pro377Ser
NM_001128425.1:c.1213C>T , LRG_220t1:c.1213C>T NP_001121897.1:p.Pro405Ser
NM_001293190.1:c.1174C>T VV NP_001280119.1:p.Pro392Ser
NM_001293191.1:c.1162C>T VV NP_001280120.1:p.Pro388Ser
NM_001293192.1:c.853C>T VV NP_001280121.1:p.Pro285Ser
NM_001293195.1:c.1129C>T VV NP_001280124.1:p.Pro377Ser
NM_001293196.1:c.853C>T VV NP_001280125.1:p.Pro285Ser
NM_012222.2:c.1204C>T VV NP_036354.1:p.Pro402Ser
XM_011541497.1:c.1189C>T XP_011539799.1:p.Pro397Ser
XM_011541498.1:c.1171C>T XP_011539800.1:p.Pro391Ser
XM_011541499.1:c.1171C>T XP_011539801.1:p.Pro391Ser
XM_011541500.1:c.1171C>T XP_011539802.1:p.Pro391Ser
XM_011541501.1:c.1171C>T XP_011539803.1:p.Pro391Ser
XM_011541502.1:c.1171C>T XP_011539804.1:p.Pro391Ser
XM_011541503.1:c.1171C>T XP_011539805.1:p.Pro391Ser
XM_011541504.1:c.1162C>T XP_011539806.1:p.Pro388Ser
XM_011541505.1:c.751C>T XP_011539807.1:p.Pro251Ser
XM_011541506.1:c.751C>T XP_011539808.1:p.Pro251Ser
XM_011541507.1:c.742C>T XP_011539809.1:p.Pro248Ser
XM_011541508.1:c.757C>T XP_011539810.1:p.Pro253Ser
XR_946658.1:n.1260C>T
NM_001350650.1:c.784C>T VV NP_001337579.1:p.Pro262Ser
NM_001350651.1:c.784C>T VV NP_001337580.1:p.Pro262Ser
NR_146882.1:n.1387C>T
NR_146883.1:n.1201C>T
XM_011541497.3:c.1189C>T XP_011539799.1:p.Pro397Ser
XM_011541500.3:c.1171C>T XP_011539802.1:p.Pro391Ser
XM_011541501.2:c.1171C>T XP_011539803.1:p.Pro391Ser
XM_011541502.2:c.1171C>T XP_011539804.1:p.Pro391Ser
XM_011541503.2:c.1171C>T XP_011539805.1:p.Pro391Ser
XM_011541504.2:c.1162C>T XP_011539806.1:p.Pro388Ser
XM_011541505.2:c.751C>T XP_011539807.1:p.Pro251Ser
XM_011541506.2:c.751C>T XP_011539808.1:p.Pro251Ser
XM_017001331.1:c.1171C>T XP_016856820.1:p.Pro391Ser
XM_017001332.1:c.1171C>T XP_016856821.1:p.Pro391Ser
XM_017001333.1:c.1171C>T XP_016856822.1:p.Pro391Ser
XM_017001334.1:c.1132C>T XP_016856823.1:p.Pro378Ser
XM_017001335.1:c.853C>T XP_016856824.1:p.Pro285Ser
XM_017001336.1:c.784C>T XP_016856825.1:p.Pro262Ser
XM_017001337.1:c.784C>T XP_016856826.1:p.Pro262Ser
XM_024447244.1:c.784C>T XP_024303012.1:p.Pro262Ser
XM_024447245.1:c.784C>T XP_024303013.1:p.Pro262Ser
XM_024447248.1:c.742C>T XP_024303016.1:p.Pro248Ser
XM_024447249.1:c.613C>T XP_024303017.1:p.Pro205Ser
XM_024447250.1:c.613C>T XP_024303018.1:p.Pro205Ser
XM_024447251.1:c.613C>T XP_024303019.1:p.Pro205Ser
XR_001737190.1:n.1174C>T
XR_001737192.1:n.986C>T
XR_002956643.1:n.1166C>T
XR_002956644.1:n.1701C>T
XR_946658.2:n.1274C>T
ENST00000354383.10:c.1132C>T ENSP00000346354.6:p.Pro378Ser
ENST00000355498.6:c.1129C>T ENSP00000347685.2:p.Pro377Ser
ENST00000372098.7:c.1204C>T ENSP00000361170.3:p.Pro402Ser
ENST00000372104.5:c.1129C>T ENSP00000361176.1:p.Pro377Ser
ENST00000372110.7:c.1174C>T ENSP00000361182.3:p.Pro392Ser
ENST00000372115.7:c.1171C>T ENSP00000361187.3:p.Pro391Ser
ENST00000448481.5:c.1162C>T ENSP00000409718.1:p.Pro388Ser
ENST00000450313.5:c.1213C>T ENSP00000408176.1:p.Pro405Ser
ENST00000456914.6:c.1129C>T ENSP00000407590.2:p.Pro377Ser
ENST00000467459.5:n.546C>T ENSP00000435889.1:p.Ser182=
ENST00000475516.5:c.*942C>T ENSP00000433843.1:p.=
ENST00000481571.5:c.*942C>T ENSP00000436597.1:p.=
ENST00000482094.5:n.450C>T
ENST00000488731.6:c.214C>T ENSP00000432330.1:p.Pro72Ser
ENST00000528013.6:c.1171C>T ENSP00000433130.2:p.Pro391Ser
ENST00000529892.5:n.204C>T
ENST00000529984.5:c.214C>T ENSP00000437093.1:p.Pro72Ser
ENST00000531105.5:c.116-2093C>T ENSP00000431292.1:p.=
ENST00000533178.5:n.758C>T ENSP00000436430.1:p.=