Canonical Allele Identifier: CA396467130

Gene: CDH1

Linked Data

• dbSNP Id: rs2152138512
• MyVariant Identifiers: chr16:g.68856075C>T (hg19) ; chr16:g.68822172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822172C>T , CM000678.2:g.68822172C>T	GRCh38
NC_000016.9:g.68856075C>T , CM000678.1:g.68856075C>T	GRCh37
NC_000016.8:g.67413576C>T	NCBI36
NG_008021.1:g.89881C>T , LRG_301:g.89881C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1883C>T MANE Select	ENSP00000261769.4:p.Ala628Val
ENST00000261769.9:c.1883C>T	ENSP00000261769.4:p.Ala628Val
ENST00000422392.6:c.1700C>T	ENSP00000414946.2:p.Ala567Val
ENST00000562836.5:n.1954C>T
ENST00000566510.5:c.*549C>T	ENSP00000458139.1:n.*549C>T
ENST00000566612.5:c.*123C>T	ENSP00000454782.1:n.*123C>T
ENST00000611625.4:c.1946C>T	ENSP00000481063.1:p.Ala649Val
ENST00000612417.4:c.1830+53C>T	ENSP00000478360.1:n.1830+53C>T
ENST00000621016.4:c.1865+18C>T	ENSP00000480664.1:n.1865+18C>T
NM_004360.3:c.1883C>T , LRG_301t1:c.1883C>T	NP_004351.1:p.Ala628Val
XM_011523488.1:c.1148C>T	XP_011521790.1:p.Ala383Val
XM_011523489.1:c.1148C>T	XP_011521791.1:p.Ala383Val
NM_001317184.1:c.1700C>T	NP_001304113.1:p.Ala567Val
NM_001317185.1:c.335C>T	NP_001304114.1:p.Ala112Val
NM_001317186.1:c.-83C>T	NP_001304115.1:n.-83C>T
NM_004360.4:c.1883C>T	NP_004351.1:p.Ala628Val
NM_004360.5:c.1883C>T MANE Select	NP_004351.1:p.Ala628Val
NM_001317184.2:c.1700C>T	NP_001304113.1:p.Ala567Val
NM_001317185.2:c.335C>T	NP_001304114.1:p.Ala112Val
NM_001317186.2:c.-83C>T	NP_001304115.1:n.-83C>T