Canonical Allele Identifier: CA396471097
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs2152142351

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829730T>C , CM000678.2:g.68829730T>C GRCh38
NC_000016.9:g.68863633T>C , CM000678.1:g.68863633T>C GRCh37
NC_000016.8:g.67421134T>C NCBI36
NG_008021.1:g.97439T>C , LRG_301:g.97439T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2372T>C MANE Select ENSP00000261769.4:p.Leu791Pro
ENST00000261769.9:c.2372T>C ENSP00000261769.4:p.Leu791Pro
ENST00000422392.6:c.2189T>C ENSP00000414946.2:p.Leu730Pro
ENST00000562118.1:n.590T>C
ENST00000562836.5:n.2443T>C
ENST00000566510.5:c.*1038T>C ENSP00000458139.1:n.*1038T>C
ENST00000566612.5:c.*612T>C ENSP00000454782.1:n.*612T>C
ENST00000611625.4:c.2435T>C ENSP00000481063.1:p.Leu812Pro
ENST00000612417.4:c.1853+3176T>C ENSP00000478360.1:n.1853+3176T>C
ENST00000621016.4:c.1866-4473T>C ENSP00000480664.1:n.1866-4473T>C
NM_004360.3:c.2372T>C , LRG_301t1:c.2372T>C NP_004351.1:p.Leu791Pro
XM_011523488.1:c.1637T>C XP_011521790.1:p.Leu546Pro
XM_011523489.1:c.1637T>C XP_011521791.1:p.Leu546Pro
NM_001317184.1:c.2189T>C NP_001304113.1:p.Leu730Pro
NM_001317185.1:c.824T>C NP_001304114.1:p.Leu275Pro
NM_001317186.1:c.407T>C NP_001304115.1:p.Leu136Pro
NM_004360.4:c.2372T>C NP_004351.1:p.Leu791Pro
NM_004360.5:c.2372T>C MANE Select NP_004351.1:p.Leu791Pro
NM_001317184.2:c.2189T>C NP_001304113.1:p.Leu730Pro
NM_001317185.2:c.824T>C NP_001304114.1:p.Leu275Pro
NM_001317186.2:c.407T>C NP_001304115.1:p.Leu136Pro