Canonical Allele Identifier: CA396466377
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs2152138187

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822031T>A , CM000678.2:g.68822031T>A GRCh38
NC_000016.9:g.68855934T>A , CM000678.1:g.68855934T>A GRCh37
NC_000016.8:g.67413435T>A NCBI36
NG_008021.1:g.89740T>A , LRG_301:g.89740T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1742T>A MANE Select ENSP00000261769.4:p.Leu581His
ENST00000261769.9:c.1742T>A ENSP00000261769.4:p.Leu581His
ENST00000422392.6:c.1559T>A ENSP00000414946.2:p.Leu520His
ENST00000562836.5:n.1813T>A
ENST00000566510.5:c.*408T>A ENSP00000458139.1:n.*408T>A
ENST00000566612.5:c.1596T>A ENSP00000454782.1:p.Thr532=
ENST00000611625.4:c.1805T>A ENSP00000481063.1:p.Leu602His
ENST00000612417.4:c.1742T>A ENSP00000478360.1:p.Leu581His
ENST00000621016.4:c.1742T>A ENSP00000480664.1:p.Leu581His
NM_004360.3:c.1742T>A , LRG_301t1:c.1742T>A NP_004351.1:p.Leu581His
XM_011523488.1:c.1007T>A XP_011521790.1:p.Leu336His
XM_011523489.1:c.1007T>A XP_011521791.1:p.Leu336His
NM_001317184.1:c.1559T>A NP_001304113.1:p.Leu520His
NM_001317185.1:c.194T>A NP_001304114.1:p.Leu65His
NM_001317186.1:c.-224T>A NP_001304115.1:n.-224T>A
NM_004360.4:c.1742T>A NP_004351.1:p.Leu581His
NM_004360.5:c.1742T>A MANE Select NP_004351.1:p.Leu581His
NM_001317184.2:c.1559T>A NP_001304113.1:p.Leu520His
NM_001317185.2:c.194T>A NP_001304114.1:p.Leu65His
NM_001317186.2:c.-224T>A NP_001304115.1:n.-224T>A