LDH info

Canonical Allele Identifier: CA121991
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12232
dbSNP Id: rs33935154
COSMIC: COSM19743

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822138G>A , CM000678.2:g.68822138G>A GRCh38
NC_000016.9:g.68856041G>A , CM000678.1:g.68856041G>A GRCh37
NC_000016.8:g.67413542G>A NCBI36
NG_008021.1:g.89847G>A , LRG_301:g.89847G>A

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.1849G>A , LRG_301t1:c.1849G>A NP_004351.1:p.Ala617Thr
XM_011523488.1:c.1114G>A XP_011521790.1:p.Ala372Thr
XM_011523489.1:c.1114G>A XP_011521791.1:p.Ala372Thr
NM_001317184.1:c.1666G>A VV NP_001304113.1:p.Ala556Thr
NM_001317185.1:c.301G>A VV NP_001304114.1:p.Ala101Thr
NM_001317186.1:c.-117G>A VV NP_001304115.1:p.=
NM_004360.4:c.1849G>A VV NP_004351.1:p.Ala617Thr
NM_004360.5:c.1849G>A VV MANE Preferred NP_004351.1:p.Ala617Thr
ENST00000261769.9:c.1849G>A ENSP00000261769.4:p.Ala617Thr
ENST00000422392.6:c.1666G>A ENSP00000414946.2:p.Ala556Thr
ENST00000562836.5:n.1920G>A
ENST00000566510.5:c.*515G>A ENSP00000458139.1:p.=
ENST00000566612.5:c.*89G>A ENSP00000454782.1:p.=
ENST00000611625.4:c.1912G>A ENSP00000481063.1:p.Ala638Thr
ENST00000612417.4:c.1830+19G>A ENSP00000478360.1:p.=
ENST00000621016.4:c.1849G>A ENSP00000480664.1:p.Ala617Thr