Canonical Allele Identifier: CA396463340
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs2152135066

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815707A>C , CM000678.2:g.68815707A>C GRCh38
NC_000016.9:g.68849610A>C , CM000678.1:g.68849610A>C GRCh37
NC_000016.8:g.67407111A>C NCBI36
NG_008021.1:g.83416A>C , LRG_301:g.83416A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1513A>C MANE Select ENSP00000261769.4:p.Ile505Leu
ENST00000261769.9:c.1513A>C ENSP00000261769.4:p.Ile505Leu
ENST00000422392.6:c.1330A>C ENSP00000414946.2:p.Ile444Leu
ENST00000562836.5:n.1584A>C
ENST00000566510.5:c.*179A>C ENSP00000458139.1:n.*179A>C
ENST00000566612.5:c.1513A>C ENSP00000454782.1:p.Ile505Leu
ENST00000611625.4:c.1576A>C ENSP00000481063.1:p.Ile526Leu
ENST00000612417.4:c.1513A>C ENSP00000478360.1:p.Ile505Leu
ENST00000621016.4:c.1513A>C ENSP00000480664.1:p.Ile505Leu
NM_004360.3:c.1513A>C , LRG_301t1:c.1513A>C NP_004351.1:p.Ile505Leu
XM_011523488.1:c.778A>C XP_011521790.1:p.Ile260Leu
XM_011523489.1:c.778A>C XP_011521791.1:p.Ile260Leu
NM_001317184.1:c.1330A>C NP_001304113.1:p.Ile444Leu
NM_001317185.1:c.-36A>C NP_001304114.1:n.-36A>C
NM_001317186.1:c.-307A>C NP_001304115.1:n.-307A>C
NM_004360.4:c.1513A>C NP_004351.1:p.Ile505Leu
NM_004360.5:c.1513A>C MANE Select NP_004351.1:p.Ile505Leu
NM_001317184.2:c.1330A>C NP_001304113.1:p.Ile444Leu
NM_001317185.2:c.-36A>C NP_001304114.1:n.-36A>C
NM_001317186.2:c.-307A>C NP_001304115.1:n.-307A>C