Canonical Allele Identifier: CA334001
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188085
dbSNP Id: rs746481984

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819393C>T , CM000678.2:g.68819393C>T GRCh38
NC_000016.9:g.68853296C>T , CM000678.1:g.68853296C>T GRCh37
NC_000016.8:g.67410797C>T NCBI36
NG_008021.1:g.87102C>T , LRG_301:g.87102C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1679C>T MANE Select ENSP00000261769.4:p.Thr560Met
ENST00000261769.9:c.1679C>T ENSP00000261769.4:p.Thr560Met
ENST00000422392.6:c.1496C>T ENSP00000414946.2:p.Thr499Met
ENST00000562836.5:n.1750C>T
ENST00000566510.5:c.*345C>T ENSP00000458139.1:p.=
ENST00000566612.5:c.1566-2608C>T ENSP00000454782.1:p.=
ENST00000611625.4:c.1742C>T ENSP00000481063.1:p.Thr581Met
ENST00000612417.4:c.1679C>T ENSP00000478360.1:p.Thr560Met
ENST00000621016.4:c.1679C>T ENSP00000480664.1:p.Thr560Met
NM_004360.3:c.1679C>T , LRG_301t1:c.1679C>T NP_004351.1:p.Thr560Met
XM_011523488.1:c.944C>T XP_011521790.1:p.Thr315Met
XM_011523489.1:c.944C>T XP_011521791.1:p.Thr315Met
NM_001317184.1:c.1496C>T NP_001304113.1:p.Thr499Met
NM_001317185.1:c.131C>T NP_001304114.1:p.Thr44Met
NM_001317186.1:c.-254-2608C>T NP_001304115.1:p.=
NM_004360.4:c.1679C>T NP_004351.1:p.Thr560Met
NM_004360.5:c.1679C>T MANE Select NP_004351.1:p.Thr560Met
NM_001317184.2:c.1496C>T NP_001304113.1:p.Thr499Met
NM_001317185.2:c.131C>T NP_001304114.1:p.Thr44Met
NM_001317186.2:c.-254-2608C>T NP_001304115.1:p.=