LDH info

Canonical Allele Identifier: CA169506
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 142826
dbSNP Id: rs587782750

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822210C>T , CM000678.2:g.68822210C>T GRCh38
NC_000016.9:g.68856113C>T , CM000678.1:g.68856113C>T GRCh37
NC_000016.8:g.67413614C>T NCBI36
NG_008021.1:g.89919C>T , LRG_301:g.89919C>T

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.1921C>T , LRG_301t1:c.1921C>T NP_004351.1:p.Gln641Ter
XM_011523488.1:c.1186C>T XP_011521790.1:p.Gln396Ter
XM_011523489.1:c.1186C>T XP_011521791.1:p.Gln396Ter
NM_001317184.1:c.1738C>T VV NP_001304113.1:p.Gln580Ter
NM_001317185.1:c.373C>T VV NP_001304114.1:p.Gln125Ter
NM_001317186.1:c.-45C>T VV NP_001304115.1:p.=
NM_004360.4:c.1921C>T VV NP_004351.1:p.Gln641Ter
NM_004360.5:c.1921C>T VV MANE Preferred NP_004351.1:p.Gln641Ter
ENST00000261769.9:c.1921C>T ENSP00000261769.4:p.Gln641Ter
ENST00000422392.6:c.1738C>T ENSP00000414946.2:p.Gln580Ter
ENST00000562836.5:n.1992C>T
ENST00000566510.5:c.*587C>T ENSP00000458139.1:p.=
ENST00000566612.5:c.*161C>T ENSP00000454782.1:p.=
ENST00000611625.4:c.1984C>T ENSP00000481063.1:p.Gln662Ter
ENST00000612417.4:c.1830+91C>T ENSP00000478360.1:p.=
ENST00000621016.4:c.1865+56C>T ENSP00000480664.1:p.=