Canonical Allele Identifier: CA396467239
Community Standard Title: NM_004360.5(CDH1):c.1914G>A (p.Trp638Ter)
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822203G>A , CM000678.2:g.68822203G>A GRCh38
NC_000016.9:g.68856106G>A , CM000678.1:g.68856106G>A GRCh37
NC_000016.8:g.67413607G>A NCBI36
NG_008021.1:g.89912G>A , LRG_301:g.89912G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.1914G>A MANE Select NP_004351.1:p.Trp638Ter
ENST00000261769.10:c.1914G>A MANE Select ENSP00000261769.4:p.Trp638Ter
NM_001317184.1:c.1731G>A NP_001304113.1:p.Trp577Ter
NM_001317184.2:c.1731G>A NP_001304113.1:p.Trp577Ter
NM_001317185.1:c.366G>A NP_001304114.1:p.Trp122Ter
NM_001317185.2:c.366G>A NP_001304114.1:p.Trp122Ter
NM_001317186.1:c.-52G>A NP_001304115.1:n.-52G>A
NM_001317186.2:c.-52G>A NP_001304115.1:n.-52G>A
NM_004360.3:c.1914G>A , LRG_301t1:c.1914G>A NP_004351.1:p.Trp638Ter
NM_004360.4:c.1914G>A NP_004351.1:p.Trp638Ter
ENST00000261769.9:c.1914G>A ENSP00000261769.4:p.Trp638Ter
ENST00000422392.6:c.1731G>A ENSP00000414946.2:p.Trp577Ter
ENST00000562836.5:n.1985G>A
ENST00000566510.5:c.*580G>A ENSP00000458139.1:n.*580G>A
ENST00000566612.5:c.*154G>A ENSP00000454782.1:n.*154G>A
ENST00000611625.4:c.1977G>A ENSP00000481063.1:p.Trp659Ter
ENST00000612417.4:c.1830+84G>A ENSP00000478360.1:n.1830+84G>A
ENST00000621016.4:c.1865+49G>A ENSP00000480664.1:n.1865+49G>A
XM_011523488.1:c.1179G>A XP_011521790.1:p.Trp393Ter
XM_011523489.1:c.1179G>A XP_011521791.1:p.Trp393Ter