Canonical Allele Identifier: CA8130118
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs747801796

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819357T>C , CM000678.2:g.68819357T>C GRCh38
NC_000016.9:g.68853260T>C , CM000678.1:g.68853260T>C GRCh37
NC_000016.8:g.67410761T>C NCBI36
NG_008021.1:g.87066T>C , LRG_301:g.87066T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1643T>C MANE Select ENSP00000261769.4:p.Leu548Pro
ENST00000261769.9:c.1643T>C ENSP00000261769.4:p.Leu548Pro
ENST00000422392.6:c.1460T>C ENSP00000414946.2:p.Leu487Pro
ENST00000562836.5:n.1714T>C
ENST00000566510.5:c.*309T>C ENSP00000458139.1:n.*309T>C
ENST00000566612.5:c.1566-2644T>C ENSP00000454782.1:n.1566-2644T>C
ENST00000611625.4:c.1706T>C ENSP00000481063.1:p.Leu569Pro
ENST00000612417.4:c.1643T>C ENSP00000478360.1:p.Leu548Pro
ENST00000621016.4:c.1643T>C ENSP00000480664.1:p.Leu548Pro
NM_004360.3:c.1643T>C , LRG_301t1:c.1643T>C NP_004351.1:p.Leu548Pro
XM_011523488.1:c.908T>C XP_011521790.1:p.Leu303Pro
XM_011523489.1:c.908T>C XP_011521791.1:p.Leu303Pro
NM_001317184.1:c.1460T>C NP_001304113.1:p.Leu487Pro
NM_001317185.1:c.95T>C NP_001304114.1:p.Leu32Pro
NM_001317186.1:c.-254-2644T>C NP_001304115.1:n.-254-2644T>C
NM_004360.4:c.1643T>C NP_004351.1:p.Leu548Pro
NM_004360.5:c.1643T>C MANE Select NP_004351.1:p.Leu548Pro
NM_001317184.2:c.1460T>C NP_001304113.1:p.Leu487Pro
NM_001317185.2:c.95T>C NP_001304114.1:p.Leu32Pro
NM_001317186.2:c.-254-2644T>C NP_001304115.1:n.-254-2644T>C