Canonical Allele Identifier: CA496392768
Gene: CDH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.68856049T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822146T>C , CM000678.2:g.68822146T>C GRCh38
NC_000016.9:g.68856049T>C , CM000678.1:g.68856049T>C GRCh37
NC_000016.8:g.67413550T>C NCBI36
NG_008021.1:g.89855T>C , LRG_301:g.89855T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1857T>C MANE Select ENSP00000261769.4:p.Leu619=
ENST00000261769.9:c.1857T>C ENSP00000261769.4:p.Leu619=
ENST00000422392.6:c.1674T>C ENSP00000414946.2:p.Leu558=
ENST00000562836.5:n.1928T>C
ENST00000566510.5:c.*523T>C ENSP00000458139.1:n.*523T>C
ENST00000566612.5:c.*97T>C ENSP00000454782.1:n.*97T>C
ENST00000611625.4:c.1920T>C ENSP00000481063.1:p.Leu640=
ENST00000612417.4:c.1830+27T>C ENSP00000478360.1:n.1830+27T>C
ENST00000621016.4:c.1857T>C ENSP00000480664.1:p.Leu619=
NM_004360.3:c.1857T>C , LRG_301t1:c.1857T>C NP_004351.1:p.Leu619=
XM_011523488.1:c.1122T>C XP_011521790.1:p.Leu374=
XM_011523489.1:c.1122T>C XP_011521791.1:p.Leu374=
NM_001317184.1:c.1674T>C NP_001304113.1:p.Leu558=
NM_001317185.1:c.309T>C NP_001304114.1:p.Leu103=
NM_001317186.1:c.-109T>C NP_001304115.1:n.-109T>C
NM_004360.4:c.1857T>C NP_004351.1:p.Leu619=
NM_004360.5:c.1857T>C MANE Select NP_004351.1:p.Leu619=
NM_001317184.2:c.1674T>C NP_001304113.1:p.Leu558=
NM_001317185.2:c.309T>C NP_001304114.1:p.Leu103=
NM_001317186.2:c.-109T>C NP_001304115.1:n.-109T>C