Canonical Allele Identifier: CA396471153
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1046930
ClinVar RCV Id: RCV001351555
dbSNP Id: rs1555517888
MyVariant Identifiers: chr16:g.68863645C>T (hg19) chr16:g.68829742C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829742C>T , CM000678.2:g.68829742C>T GRCh38
NC_000016.9:g.68863645C>T , CM000678.1:g.68863645C>T GRCh37
NC_000016.8:g.67421146C>T NCBI36
NG_008021.1:g.97451C>T , LRG_301:g.97451C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2384C>T MANE Select ENSP00000261769.4:p.Pro795Leu
ENST00000261769.9:c.2384C>T ENSP00000261769.4:p.Pro795Leu
ENST00000422392.6:c.2201C>T ENSP00000414946.2:p.Pro734Leu
ENST00000562118.1:n.602C>T
ENST00000562836.5:n.2455C>T
ENST00000566510.5:c.*1050C>T ENSP00000458139.1:n.*1050C>T
ENST00000566612.5:c.*624C>T ENSP00000454782.1:n.*624C>T
ENST00000611625.4:c.2447C>T ENSP00000481063.1:p.Pro816Leu
ENST00000612417.4:c.1853+3188C>T ENSP00000478360.1:n.1853+3188C>T
ENST00000621016.4:c.1866-4461C>T ENSP00000480664.1:n.1866-4461C>T
NM_004360.3:c.2384C>T , LRG_301t1:c.2384C>T NP_004351.1:p.Pro795Leu
XM_011523488.1:c.1649C>T XP_011521790.1:p.Pro550Leu
XM_011523489.1:c.1649C>T XP_011521791.1:p.Pro550Leu
NM_001317184.1:c.2201C>T NP_001304113.1:p.Pro734Leu
NM_001317185.1:c.836C>T NP_001304114.1:p.Pro279Leu
NM_001317186.1:c.419C>T NP_001304115.1:p.Pro140Leu
NM_004360.4:c.2384C>T NP_004351.1:p.Pro795Leu
NM_004360.5:c.2384C>T MANE Select NP_004351.1:p.Pro795Leu
NM_001317184.2:c.2201C>T NP_001304113.1:p.Pro734Leu
NM_001317185.2:c.836C>T NP_001304114.1:p.Pro279Leu
NM_001317186.2:c.419C>T NP_001304115.1:p.Pro140Leu
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