Canonical Allele Identifier: CA396458595
Gene: CDH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810263G>T , CM000678.2:g.68810263G>T GRCh38
NC_000016.9:g.68844166G>T , CM000678.1:g.68844166G>T GRCh37
NC_000016.8:g.67401667G>T NCBI36
NG_008021.1:g.77972G>T , LRG_301:g.77972G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.754G>T MANE Select ENSP00000261769.4:p.Val252Leu
ENST00000261769.9:c.754G>T ENSP00000261769.4:p.Val252Leu
ENST00000422392.6:c.754G>T ENSP00000414946.2:p.Val252Leu
ENST00000561751.1:c.454+1415G>T
ENST00000562836.5:n.825G>T
ENST00000566510.5:c.598G>T ENSP00000458139.1:p.Val200Leu
ENST00000566612.5:c.754G>T ENSP00000454782.1:p.Val252Leu
ENST00000611625.4:c.754G>T ENSP00000481063.1:p.Val252Leu
ENST00000612417.4:c.754G>T ENSP00000478360.1:p.Val252Leu
ENST00000621016.4:c.754G>T ENSP00000480664.1:p.Val252Leu
NM_004360.3:c.754G>T , LRG_301t1:c.754G>T NP_004351.1:p.Val252Leu
XM_011523488.1:c.19G>T XP_011521790.1:p.Val7Leu
XM_011523489.1:c.19G>T XP_011521791.1:p.Val7Leu
NM_001317184.1:c.754G>T NP_001304113.1:p.Val252Leu
NM_001317185.1:c.-862G>T NP_001304114.1:n.-862G>T
NM_001317186.1:c.-1066G>T NP_001304115.1:n.-1066G>T
NM_004360.4:c.754G>T NP_004351.1:p.Val252Leu
NM_004360.5:c.754G>T MANE Select NP_004351.1:p.Val252Leu
NM_001317184.2:c.754G>T NP_001304113.1:p.Val252Leu
NM_001317185.2:c.-862G>T NP_001304114.1:n.-862G>T
NM_001317186.2:c.-1066G>T NP_001304115.1:n.-1066G>T