Canonical Allele Identifier: CA396462833

Gene: CDH1

Linked Data

• dbSNP Id: rs2152134785
• COSMIC: COSM6079791
• MyVariant Identifiers: chr16:g.68849475G>T (hg19) ; chr16:g.68815572G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815572G>T , CM000678.2:g.68815572G>T	GRCh38
NC_000016.9:g.68849475G>T , CM000678.1:g.68849475G>T	GRCh37
NC_000016.8:g.67406976G>T	NCBI36
NG_008021.1:g.83281G>T , LRG_301:g.83281G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1378G>T MANE Select	ENSP00000261769.4:p.Val460Leu
ENST00000261769.9:c.1378G>T	ENSP00000261769.4:p.Val460Leu
ENST00000422392.6:c.1195G>T	ENSP00000414946.2:p.Val399Leu
ENST00000562836.5:n.1449G>T
ENST00000566510.5:c.*44G>T	ENSP00000458139.1:n.*44G>T
ENST00000566612.5:c.1378G>T	ENSP00000454782.1:p.Val460Leu
ENST00000611625.4:c.1441G>T	ENSP00000481063.1:p.Val481Leu
ENST00000612417.4:c.1378G>T	ENSP00000478360.1:p.Val460Leu
ENST00000621016.4:c.1378G>T	ENSP00000480664.1:p.Val460Leu
NM_004360.3:c.1378G>T , LRG_301t1:c.1378G>T	NP_004351.1:p.Val460Leu
XM_011523488.1:c.643G>T	XP_011521790.1:p.Val215Leu
XM_011523489.1:c.643G>T	XP_011521791.1:p.Val215Leu
NM_001317184.1:c.1195G>T	NP_001304113.1:p.Val399Leu
NM_001317185.1:c.-171G>T	NP_001304114.1:n.-171G>T
NM_001317186.1:c.-442G>T	NP_001304115.1:n.-442G>T
NM_004360.4:c.1378G>T	NP_004351.1:p.Val460Leu
NM_004360.5:c.1378G>T MANE Select	NP_004351.1:p.Val460Leu
NM_001317184.2:c.1195G>T	NP_001304113.1:p.Val399Leu
NM_001317185.2:c.-171G>T	NP_001304114.1:n.-171G>T
NM_001317186.2:c.-442G>T	NP_001304115.1:n.-442G>T