Canonical Allele Identifier: CA193926

Gene: CDH1

Linked Data

• ClinVar Variation Id: 186125
• ClinVar RCV Id: RCV000165660 ; RCV001775645 ; RCV001042404
• dbSNP Id: rs786202712
• MyVariant Identifiers: chr16:g.68853320C>T (hg19) ; chr16:g.68819417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819417C>T , CM000678.2:g.68819417C>T	GRCh38
NC_000016.9:g.68853320C>T , CM000678.1:g.68853320C>T	GRCh37
NC_000016.8:g.67410821C>T	NCBI36
NG_008021.1:g.87126C>T , LRG_301:g.87126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1703C>T MANE Select	ENSP00000261769.4:p.Thr568Ile
ENST00000261769.9:c.1703C>T	ENSP00000261769.4:p.Thr568Ile
ENST00000422392.6:c.1520C>T	ENSP00000414946.2:p.Thr507Ile
ENST00000562836.5:n.1774C>T
ENST00000566510.5:c.*369C>T	ENSP00000458139.1:n.*369C>T
ENST00000566612.5:c.1566-2584C>T	ENSP00000454782.1:n.1566-2584C>T
ENST00000611625.4:c.1766C>T	ENSP00000481063.1:p.Thr589Ile
ENST00000612417.4:c.1703C>T	ENSP00000478360.1:p.Thr568Ile
ENST00000621016.4:c.1703C>T	ENSP00000480664.1:p.Thr568Ile
NM_004360.3:c.1703C>T , LRG_301t1:c.1703C>T	NP_004351.1:p.Thr568Ile
XM_011523488.1:c.968C>T	XP_011521790.1:p.Thr323Ile
XM_011523489.1:c.968C>T	XP_011521791.1:p.Thr323Ile
NM_001317184.1:c.1520C>T	NP_001304113.1:p.Thr507Ile
NM_001317185.1:c.155C>T	NP_001304114.1:p.Thr52Ile
NM_001317186.1:c.-254-2584C>T	NP_001304115.1:n.-254-2584C>T
NM_004360.4:c.1703C>T	NP_004351.1:p.Thr568Ile
NM_004360.5:c.1703C>T MANE Select	NP_004351.1:p.Thr568Ile
NM_001317184.2:c.1520C>T	NP_001304113.1:p.Thr507Ile
NM_001317185.2:c.155C>T	NP_001304114.1:p.Thr52Ile
NM_001317186.2:c.-254-2584C>T	NP_001304115.1:n.-254-2584C>T