Canonical Allele Identifier: CA396469341

Gene: CDH1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68828192T>A , CM000678.2:g.68828192T>A	GRCh38
NC_000016.9:g.68862095T>A , CM000678.1:g.68862095T>A	GRCh37
NC_000016.8:g.67419596T>A	NCBI36
NG_008021.1:g.95901T>A , LRG_301:g.95901T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004360.5:c.2183T>A MANE Select	NP_004351.1:p.Leu728Ter
ENST00000261769.10:c.2183T>A MANE Select	ENSP00000261769.4:p.Leu728Ter
NM_001317184.1:c.2000T>A	NP_001304113.1:p.Leu667Ter
NM_001317184.2:c.2000T>A	NP_001304113.1:p.Leu667Ter
NM_001317185.1:c.635T>A	NP_001304114.1:p.Leu212Ter
NM_001317185.2:c.635T>A	NP_001304114.1:p.Leu212Ter
NM_001317186.1:c.218T>A	NP_001304115.1:p.Leu73Ter
NM_001317186.2:c.218T>A	NP_001304115.1:p.Leu73Ter
NM_004360.3:c.2183T>A , LRG_301t1:c.2183T>A	NP_004351.1:p.Leu728Ter
NM_004360.4:c.2183T>A	NP_004351.1:p.Leu728Ter
ENST00000261769.9:c.2183T>A	ENSP00000261769.4:p.Leu728Ter
ENST00000422392.6:c.2000T>A	ENSP00000414946.2:p.Leu667Ter
ENST00000562118.1:n.401T>A
ENST00000562836.5:n.2254T>A
ENST00000566510.5:c.*849T>A	ENSP00000458139.1:n.*849T>A
ENST00000566612.5:c.*423T>A	ENSP00000454782.1:n.*423T>A
ENST00000611625.4:c.2246T>A	ENSP00000481063.1:p.Leu749Ter
ENST00000612417.4:c.1853+1638T>A	ENSP00000478360.1:n.1853+1638T>A
ENST00000621016.4:c.1866-6011T>A	ENSP00000480664.1:n.1866-6011T>A
XM_011523488.1:c.1448T>A	XP_011521790.1:p.Leu483Ter
XM_011523489.1:c.1448T>A	XP_011521791.1:p.Leu483Ter