Canonical Allele Identifier: CA396470843
Gene: CDH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829673T>G , CM000678.2:g.68829673T>G GRCh38
NC_000016.9:g.68863576T>G , CM000678.1:g.68863576T>G GRCh37
NC_000016.8:g.67421077T>G NCBI36
NG_008021.1:g.97382T>G , LRG_301:g.97382T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2315T>G MANE Select ENSP00000261769.4:p.Leu772Arg
ENST00000261769.9:c.2315T>G ENSP00000261769.4:p.Leu772Arg
ENST00000422392.6:c.2132T>G ENSP00000414946.2:p.Leu711Arg
ENST00000562118.1:n.533T>G
ENST00000562836.5:n.2386T>G
ENST00000566510.5:c.*981T>G ENSP00000458139.1:n.*981T>G
ENST00000566612.5:c.*555T>G ENSP00000454782.1:n.*555T>G
ENST00000611625.4:c.2378T>G ENSP00000481063.1:p.Leu793Arg
ENST00000612417.4:c.1853+3119T>G ENSP00000478360.1:n.1853+3119T>G
ENST00000621016.4:c.1866-4530T>G ENSP00000480664.1:n.1866-4530T>G
NM_004360.3:c.2315T>G , LRG_301t1:c.2315T>G NP_004351.1:p.Leu772Arg
XM_011523488.1:c.1580T>G XP_011521790.1:p.Leu527Arg
XM_011523489.1:c.1580T>G XP_011521791.1:p.Leu527Arg
NM_001317184.1:c.2132T>G NP_001304113.1:p.Leu711Arg
NM_001317185.1:c.767T>G NP_001304114.1:p.Leu256Arg
NM_001317186.1:c.350T>G NP_001304115.1:p.Leu117Arg
NM_004360.4:c.2315T>G NP_004351.1:p.Leu772Arg
NM_004360.5:c.2315T>G MANE Select NP_004351.1:p.Leu772Arg
NM_001317184.2:c.2132T>G NP_001304113.1:p.Leu711Arg
NM_001317185.2:c.767T>G NP_001304114.1:p.Leu256Arg
NM_001317186.2:c.350T>G NP_001304115.1:p.Leu117Arg