Canonical Allele Identifier: CA195370
Gene: CDH1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822078C>A , CM000678.2:g.68822078C>A GRCh38
NC_000016.9:g.68855981C>A , CM000678.1:g.68855981C>A GRCh37
NC_000016.8:g.67413482C>A NCBI36
NG_008021.1:g.89787C>A , LRG_301:g.89787C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1789C>A MANE Select ENSP00000261769.4:p.Pro597Thr
ENST00000261769.9:c.1789C>A ENSP00000261769.4:p.Pro597Thr
ENST00000422392.6:c.1606C>A ENSP00000414946.2:p.Pro536Thr
ENST00000562836.5:n.1860C>A
ENST00000566510.5:c.*455C>A ENSP00000458139.1:n.*455C>A
ENST00000566612.5:c.*29C>A ENSP00000454782.1:n.*29C>A
ENST00000611625.4:c.1852C>A ENSP00000481063.1:p.Pro618Thr
ENST00000612417.4:c.1789C>A ENSP00000478360.1:p.Pro597Thr
ENST00000621016.4:c.1789C>A ENSP00000480664.1:p.Pro597Thr
NM_004360.3:c.1789C>A , LRG_301t1:c.1789C>A NP_004351.1:p.Pro597Thr
XM_011523488.1:c.1054C>A XP_011521790.1:p.Pro352Thr
XM_011523489.1:c.1054C>A XP_011521791.1:p.Pro352Thr
NM_001317184.1:c.1606C>A NP_001304113.1:p.Pro536Thr
NM_001317185.1:c.241C>A NP_001304114.1:p.Pro81Thr
NM_001317186.1:c.-177C>A NP_001304115.1:n.-177C>A
NM_004360.4:c.1789C>A NP_004351.1:p.Pro597Thr
NM_004360.5:c.1789C>A MANE Select NP_004351.1:p.Pro597Thr
NM_001317184.2:c.1606C>A NP_001304113.1:p.Pro536Thr
NM_001317185.2:c.241C>A NP_001304114.1:p.Pro81Thr
NM_001317186.2:c.-177C>A NP_001304115.1:n.-177C>A