Canonical Allele Identifier: CA496393180
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs1060501245
MyVariant Identifiers: chr16:g.68867327C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833424C>T , CM000678.2:g.68833424C>T GRCh38
NC_000016.9:g.68867327C>T , CM000678.1:g.68867327C>T GRCh37
NC_000016.8:g.67424828C>T NCBI36
NG_008021.1:g.101133C>T , LRG_301:g.101133C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2574C>T MANE Select ENSP00000261769.4:p.Asp858=
ENST00000261769.9:c.2574C>T ENSP00000261769.4:p.Asp858=
ENST00000422392.6:c.2391C>T ENSP00000414946.2:p.Asp797=
ENST00000562118.1:n.792C>T
ENST00000562836.5:n.2645C>T
ENST00000566510.5:c.*1240C>T ENSP00000458139.1:n.*1240C>T
ENST00000566612.5:c.*814C>T ENSP00000454782.1:n.*814C>T
ENST00000611625.4:c.2637C>T ENSP00000481063.1:p.Asp879=
ENST00000612417.4:c.1854-767C>T ENSP00000478360.1:n.1854-767C>T
ENST00000621016.4:c.1866-779C>T ENSP00000480664.1:n.1866-779C>T
NM_004360.3:c.2574C>T , LRG_301t1:c.2574C>T NP_004351.1:p.Asp858=
XM_011523488.1:c.1839C>T XP_011521790.1:p.Asp613=
XM_011523489.1:c.1839C>T XP_011521791.1:p.Asp613=
NM_001317184.1:c.2391C>T NP_001304113.1:p.Asp797=
NM_001317185.1:c.1026C>T NP_001304114.1:p.Asp342=
NM_001317186.1:c.609C>T NP_001304115.1:p.Asp203=
NM_004360.4:c.2574C>T NP_004351.1:p.Asp858=
NM_004360.5:c.2574C>T MANE Select NP_004351.1:p.Asp858=
NM_001317184.2:c.2391C>T NP_001304113.1:p.Asp797=
NM_001317185.2:c.1026C>T NP_001304114.1:p.Asp342=
NM_001317186.2:c.609C>T NP_001304115.1:p.Asp203=