LDH info

Canonical Allele Identifier: CA169363
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 142770
dbSNP Id: rs1801552

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823538T>C , CM000678.2:g.68823538T>C GRCh38
NC_000016.9:g.68857441T>C , CM000678.1:g.68857441T>C GRCh37
NC_000016.8:g.67414942T>C NCBI36
NG_008021.1:g.91247T>C , LRG_301:g.91247T>C

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.2076T>C , LRG_301t1:c.2076T>C NP_004351.1:p.Ala692=
XM_011523488.1:c.1341T>C XP_011521790.1:p.Ala447=
XM_011523489.1:c.1341T>C XP_011521791.1:p.Ala447=
NM_001317184.1:c.1893T>C VV NP_001304113.1:p.Ala631=
NM_001317185.1:c.528T>C VV NP_001304114.1:p.Ala176=
NM_001317186.1:c.111T>C VV NP_001304115.1:p.Ala37=
NM_004360.4:c.2076T>C VV NP_004351.1:p.Ala692=
NM_004360.5:c.2076T>C VV MANE Preferred NP_004351.1:p.Ala692=
ENST00000261769.9:c.2076T>C ENSP00000261769.4:p.Ala692=
ENST00000422392.6:c.1893T>C ENSP00000414946.2:p.Ala631=
ENST00000562118.1:n.294T>C
ENST00000562836.5:n.2147T>C
ENST00000566510.5:c.*742T>C ENSP00000458139.1:p.=
ENST00000566612.5:c.*316T>C ENSP00000454782.1:p.=
ENST00000611625.4:c.2139T>C ENSP00000481063.1:p.Ala713=
ENST00000612417.4:c.1830+1419T>C ENSP00000478360.1:p.=
ENST00000621016.4:c.1865+1384T>C ENSP00000480664.1:p.=