LDH info

Canonical Allele Identifier: CA8130124
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 377641
dbSNP Id: rs202115589

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819424T>C , CM000678.2:g.68819424T>C GRCh38
NC_000016.9:g.68853327T>C , CM000678.1:g.68853327T>C GRCh37
NC_000016.8:g.67410828T>C NCBI36
NG_008021.1:g.87133T>C , LRG_301:g.87133T>C

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.1710T>C , LRG_301t1:c.1710T>C NP_004351.1:p.Asn570=
XM_011523488.1:c.975T>C XP_011521790.1:p.Asn325=
XM_011523489.1:c.975T>C XP_011521791.1:p.Asn325=
NM_001317184.1:c.1527T>C VV NP_001304113.1:p.Asn509=
NM_001317185.1:c.162T>C VV NP_001304114.1:p.Asn54=
NM_001317186.1:c.-254-2577T>C VV NP_001304115.1:p.=
NM_004360.4:c.1710T>C VV NP_004351.1:p.Asn570=
NM_004360.5:c.1710T>C VV MANE Preferred NP_004351.1:p.Asn570=
NM_001317184.2:c.1527T>C VV NP_001304113.1:p.Asn509=
NM_001317185.2:c.162T>C VV NP_001304114.1:p.Asn54=
NM_001317186.2:c.-254-2577T>C VV NP_001304115.1:p.=
ENST00000261769.9:c.1710T>C ENSP00000261769.4:p.Asn570=
ENST00000422392.6:c.1527T>C ENSP00000414946.2:p.Asn509=
ENST00000562836.5:n.1781T>C
ENST00000566510.5:c.*376T>C ENSP00000458139.1:p.=
ENST00000566612.5:c.1566-2577T>C ENSP00000454782.1:p.=
ENST00000611625.4:c.1773T>C ENSP00000481063.1:p.Asn591=
ENST00000612417.4:c.1710T>C ENSP00000478360.1:p.Asn570=
ENST00000621016.4:c.1710T>C ENSP00000480664.1:p.Asn570=