Canonical Allele Identifier: CA396467640

Gene: CDH1

Linked Data

• COSMIC: COSM1479034
• MyVariant Identifiers: chr16:g.68857367A>T (hg19) ; chr16:g.68823464A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823464A>T , CM000678.2:g.68823464A>T	GRCh38
NC_000016.9:g.68857367A>T , CM000678.1:g.68857367A>T	GRCh37
NC_000016.8:g.67414868A>T	NCBI36
NG_008021.1:g.91173A>T , LRG_301:g.91173A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2002A>T MANE Select	ENSP00000261769.4:p.Lys668Ter
ENST00000261769.9:c.2002A>T	ENSP00000261769.4:p.Lys668Ter
ENST00000422392.6:c.1819A>T	ENSP00000414946.2:p.Lys607Ter
ENST00000562118.1:n.220A>T
ENST00000562836.5:n.2073A>T
ENST00000566510.5:c.*668A>T	ENSP00000458139.1:n.*668A>T
ENST00000566612.5:c.*242A>T	ENSP00000454782.1:n.*242A>T
ENST00000611625.4:c.2065A>T	ENSP00000481063.1:p.Lys689Ter
ENST00000612417.4:c.1830+1345A>T	ENSP00000478360.1:n.1830+1345A>T
ENST00000621016.4:c.1865+1310A>T	ENSP00000480664.1:n.1865+1310A>T
NM_004360.3:c.2002A>T , LRG_301t1:c.2002A>T	NP_004351.1:p.Lys668Ter
XM_011523488.1:c.1267A>T	XP_011521790.1:p.Lys423Ter
XM_011523489.1:c.1267A>T	XP_011521791.1:p.Lys423Ter
NM_001317184.1:c.1819A>T	NP_001304113.1:p.Lys607Ter
NM_001317185.1:c.454A>T	NP_001304114.1:p.Lys152Ter
NM_001317186.1:c.37A>T	NP_001304115.1:p.Lys13Ter
NM_004360.4:c.2002A>T	NP_004351.1:p.Lys668Ter
NM_004360.5:c.2002A>T MANE Select	NP_004351.1:p.Lys668Ter
NM_001317184.2:c.1819A>T	NP_001304113.1:p.Lys607Ter
NM_001317185.2:c.454A>T	NP_001304114.1:p.Lys152Ter
NM_001317186.2:c.37A>T	NP_001304115.1:p.Lys13Ter