Canonical Allele Identifier: CA396471954
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs1596976107

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833294T>C , CM000678.2:g.68833294T>C GRCh38
NC_000016.9:g.68867197T>C , CM000678.1:g.68867197T>C GRCh37
NC_000016.8:g.67424698T>C NCBI36
NG_008021.1:g.101003T>C , LRG_301:g.101003T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2444T>C MANE Select ENSP00000261769.4:p.Leu815Pro
ENST00000261769.9:c.2444T>C ENSP00000261769.4:p.Leu815Pro
ENST00000422392.6:c.2261T>C ENSP00000414946.2:p.Leu754Pro
ENST00000562118.1:n.662T>C
ENST00000562836.5:n.2515T>C
ENST00000566510.5:c.*1110T>C ENSP00000458139.1:n.*1110T>C
ENST00000566612.5:c.*684T>C ENSP00000454782.1:n.*684T>C
ENST00000611625.4:c.2507T>C ENSP00000481063.1:p.Leu836Pro
ENST00000612417.4:c.1854-897T>C ENSP00000478360.1:n.1854-897T>C
ENST00000621016.4:c.1866-909T>C ENSP00000480664.1:n.1866-909T>C
NM_004360.3:c.2444T>C , LRG_301t1:c.2444T>C NP_004351.1:p.Leu815Pro
XM_011523488.1:c.1709T>C XP_011521790.1:p.Leu570Pro
XM_011523489.1:c.1709T>C XP_011521791.1:p.Leu570Pro
NM_001317184.1:c.2261T>C NP_001304113.1:p.Leu754Pro
NM_001317185.1:c.896T>C NP_001304114.1:p.Leu299Pro
NM_001317186.1:c.479T>C NP_001304115.1:p.Leu160Pro
NM_004360.4:c.2444T>C NP_004351.1:p.Leu815Pro
NM_004360.5:c.2444T>C MANE Select NP_004351.1:p.Leu815Pro
NM_001317184.2:c.2261T>C NP_001304113.1:p.Leu754Pro
NM_001317185.2:c.896T>C NP_001304114.1:p.Leu299Pro
NM_001317186.2:c.479T>C NP_001304115.1:p.Leu160Pro