Canonical Allele Identifier: CA396467541

Gene: CDH1

Linked Data

• dbSNP Id: rs2152139267
• COSMIC: COSM1659151
• MyVariant Identifiers: chr16:g.68857322A>T (hg19) ; chr16:g.68823419A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823419A>T , CM000678.2:g.68823419A>T	GRCh38
NC_000016.9:g.68857322A>T , CM000678.1:g.68857322A>T	GRCh37
NC_000016.8:g.67414823A>T	NCBI36
NG_008021.1:g.91128A>T , LRG_301:g.91128A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1957A>T MANE Select	ENSP00000261769.4:p.Lys653Ter
ENST00000261769.9:c.1957A>T	ENSP00000261769.4:p.Lys653Ter
ENST00000422392.6:c.1774A>T	ENSP00000414946.2:p.Lys592Ter
ENST00000562118.1:n.175A>T
ENST00000562836.5:n.2028A>T
ENST00000566510.5:c.*623A>T	ENSP00000458139.1:n.*623A>T
ENST00000566612.5:c.*197A>T	ENSP00000454782.1:n.*197A>T
ENST00000611625.4:c.2020A>T	ENSP00000481063.1:p.Lys674Ter
ENST00000612417.4:c.1830+1300A>T	ENSP00000478360.1:n.1830+1300A>T
ENST00000621016.4:c.1865+1265A>T	ENSP00000480664.1:n.1865+1265A>T
NM_004360.3:c.1957A>T , LRG_301t1:c.1957A>T	NP_004351.1:p.Lys653Ter
XM_011523488.1:c.1222A>T	XP_011521790.1:p.Lys408Ter
XM_011523489.1:c.1222A>T	XP_011521791.1:p.Lys408Ter
NM_001317184.1:c.1774A>T	NP_001304113.1:p.Lys592Ter
NM_001317185.1:c.409A>T	NP_001304114.1:p.Lys137Ter
NM_001317186.1:c.-9A>T	NP_001304115.1:n.-9A>T
NM_004360.4:c.1957A>T	NP_004351.1:p.Lys653Ter
NM_004360.5:c.1957A>T MANE Select	NP_004351.1:p.Lys653Ter
NM_001317184.2:c.1774A>T	NP_001304113.1:p.Lys592Ter
NM_001317185.2:c.409A>T	NP_001304114.1:p.Lys137Ter
NM_001317186.2:c.-9A>T	NP_001304115.1:n.-9A>T