LDH info

Canonical Allele Identifier: CA192333
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 185583
ClinVar RCV Id: RCV000165027
dbSNP Id: rs786202290
COSMIC: COSM19766

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819425G>A , CM000678.2:g.68819425G>A GRCh38
NC_000016.9:g.68853328G>A , CM000678.1:g.68853328G>A GRCh37
NC_000016.8:g.67410829G>A NCBI36
NG_008021.1:g.87134G>A , LRG_301:g.87134G>A

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.1711G>A , LRG_301t1:c.1711G>A NP_004351.1:p.Gly571Ser
XM_011523488.1:c.976G>A XP_011521790.1:p.Gly326Ser
XM_011523489.1:c.976G>A XP_011521791.1:p.Gly326Ser
NM_001317184.1:c.1528G>A VV NP_001304113.1:p.Gly510Ser
NM_001317185.1:c.163G>A VV NP_001304114.1:p.Gly55Ser
NM_001317186.1:c.-254-2576G>A VV NP_001304115.1:p.=
NM_004360.4:c.1711G>A VV NP_004351.1:p.Gly571Ser
NM_004360.5:c.1711G>A VV MANE Preferred NP_004351.1:p.Gly571Ser
ENST00000261769.9:c.1711G>A ENSP00000261769.4:p.Gly571Ser
ENST00000422392.6:c.1528G>A ENSP00000414946.2:p.Gly510Ser
ENST00000562836.5:n.1782G>A
ENST00000566510.5:c.*377G>A ENSP00000458139.1:p.=
ENST00000566612.5:c.1566-2576G>A ENSP00000454782.1:p.=
ENST00000611625.4:c.1774G>A ENSP00000481063.1:p.Gly592Ser
ENST00000612417.4:c.1711G>A ENSP00000478360.1:p.Gly571Ser
ENST00000621016.4:c.1711G>A ENSP00000480664.1:p.Gly571Ser