LDH info

Canonical Allele Identifier: CA281003
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12244
ClinVar RCV Id: RCV000013031
dbSNP Id: rs121964878
COSMIC: COSM19822

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822190C>T , CM000678.2:g.68822190C>T GRCh38
NC_000016.9:g.68856093C>T , CM000678.1:g.68856093C>T GRCh37
NC_000016.8:g.67413594C>T NCBI36
NG_008021.1:g.89899C>T , LRG_301:g.89899C>T

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.1901C>T , LRG_301t1:c.1901C>T NP_004351.1:p.Ala634Val
XM_011523488.1:c.1166C>T XP_011521790.1:p.Ala389Val
XM_011523489.1:c.1166C>T XP_011521791.1:p.Ala389Val
NM_001317184.1:c.1718C>T VV NP_001304113.1:p.Ala573Val
NM_001317185.1:c.353C>T VV NP_001304114.1:p.Ala118Val
NM_001317186.1:c.-65C>T VV NP_001304115.1:p.=
NM_004360.4:c.1901C>T VV NP_004351.1:p.Ala634Val
NM_004360.5:c.1901C>T VV MANE Preferred NP_004351.1:p.Ala634Val
ENST00000261769.9:c.1901C>T ENSP00000261769.4:p.Ala634Val
ENST00000422392.6:c.1718C>T ENSP00000414946.2:p.Ala573Val
ENST00000562836.5:n.1972C>T
ENST00000566510.5:c.*567C>T ENSP00000458139.1:p.=
ENST00000566612.5:c.*141C>T ENSP00000454782.1:p.=
ENST00000611625.4:c.1964C>T ENSP00000481063.1:p.Ala655Val
ENST00000612417.4:c.1830+71C>T ENSP00000478360.1:p.=
ENST00000621016.4:c.1865+36C>T ENSP00000480664.1:p.=