LDH info

Canonical Allele Identifier: CA121994
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12233
dbSNP Id: rs121964872
COSMIC: COSM19745

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833362A>G , CM000678.2:g.68833362A>G GRCh38
NC_000016.9:g.68867265A>G , CM000678.1:g.68867265A>G GRCh37
NC_000016.8:g.67424766A>G NCBI36
NG_008021.1:g.101071A>G , LRG_301:g.101071A>G

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.2512A>G , LRG_301t1:c.2512A>G NP_004351.1:p.Ser838Gly
XM_011523488.1:c.1777A>G XP_011521790.1:p.Ser593Gly
XM_011523489.1:c.1777A>G XP_011521791.1:p.Ser593Gly
NM_001317184.1:c.2329A>G VV NP_001304113.1:p.Ser777Gly
NM_001317185.1:c.964A>G VV NP_001304114.1:p.Ser322Gly
NM_001317186.1:c.547A>G VV NP_001304115.1:p.Ser183Gly
NM_004360.4:c.2512A>G VV NP_004351.1:p.Ser838Gly
NM_004360.5:c.2512A>G VV MANE Preferred NP_004351.1:p.Ser838Gly
ENST00000261769.9:c.2512A>G ENSP00000261769.4:p.Ser838Gly
ENST00000422392.6:c.2329A>G ENSP00000414946.2:p.Ser777Gly
ENST00000562118.1:n.730A>G
ENST00000562836.5:n.2583A>G
ENST00000566510.5:c.*1178A>G ENSP00000458139.1:p.=
ENST00000566612.5:c.*752A>G ENSP00000454782.1:p.=
ENST00000611625.4:c.2575A>G ENSP00000481063.1:p.Ser859Gly
ENST00000612417.4:c.1854-829A>G ENSP00000478360.1:p.=
ENST00000621016.4:c.1866-841A>G ENSP00000480664.1:p.=