Canonical Allele Identifier: CA10580129
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 234181
dbSNP Id: rs876660905

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819421C>A , CM000678.2:g.68819421C>A GRCh38
NC_000016.9:g.68853324C>A , CM000678.1:g.68853324C>A GRCh37
NC_000016.8:g.67410825C>A NCBI36
NG_008021.1:g.87130C>A , LRG_301:g.87130C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1707C>A MANE Select ENSP00000261769.4:p.Asp569Glu
ENST00000261769.9:c.1707C>A ENSP00000261769.4:p.Asp569Glu
ENST00000422392.6:c.1524C>A ENSP00000414946.2:p.Asp508Glu
ENST00000562836.5:n.1778C>A
ENST00000566510.5:c.*373C>A ENSP00000458139.1:n.*373C>A
ENST00000566612.5:c.1566-2580C>A ENSP00000454782.1:n.1566-2580C>A
ENST00000611625.4:c.1770C>A ENSP00000481063.1:p.Asp590Glu
ENST00000612417.4:c.1707C>A ENSP00000478360.1:p.Asp569Glu
ENST00000621016.4:c.1707C>A ENSP00000480664.1:p.Asp569Glu
NM_004360.3:c.1707C>A , LRG_301t1:c.1707C>A NP_004351.1:p.Asp569Glu
XM_011523488.1:c.972C>A XP_011521790.1:p.Asp324Glu
XM_011523489.1:c.972C>A XP_011521791.1:p.Asp324Glu
NM_001317184.1:c.1524C>A NP_001304113.1:p.Asp508Glu
NM_001317185.1:c.159C>A NP_001304114.1:p.Asp53Glu
NM_001317186.1:c.-254-2580C>A NP_001304115.1:n.-254-2580C>A
NM_004360.4:c.1707C>A NP_004351.1:p.Asp569Glu
NM_004360.5:c.1707C>A MANE Select NP_004351.1:p.Asp569Glu
NM_001317184.2:c.1524C>A NP_001304113.1:p.Asp508Glu
NM_001317185.2:c.159C>A NP_001304114.1:p.Asp53Glu
NM_001317186.2:c.-254-2580C>A NP_001304115.1:n.-254-2580C>A