Canonical Allele Identifier: CA8130189

Gene: CDH1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823509G>A , CM000678.2:g.68823509G>A	GRCh38
NC_000016.9:g.68857412G>A , CM000678.1:g.68857412G>A	GRCh37
NC_000016.8:g.67414913G>A	NCBI36
NG_008021.1:g.91218G>A , LRG_301:g.91218G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004360.5:c.2047G>A MANE Select	NP_004351.1:p.Val683Ile
ENST00000261769.10:c.2047G>A MANE Select	ENSP00000261769.4:p.Val683Ile
NM_001317184.1:c.1864G>A	NP_001304113.1:p.Val622Ile
NM_001317184.2:c.1864G>A	NP_001304113.1:p.Val622Ile
NM_001317185.1:c.499G>A	NP_001304114.1:p.Val167Ile
NM_001317185.2:c.499G>A	NP_001304114.1:p.Val167Ile
NM_001317186.1:c.82G>A	NP_001304115.1:p.Val28Ile
NM_001317186.2:c.82G>A	NP_001304115.1:p.Val28Ile
NM_004360.3:c.2047G>A , LRG_301t1:c.2047G>A	NP_004351.1:p.Val683Ile
NM_004360.4:c.2047G>A	NP_004351.1:p.Val683Ile
ENST00000261769.9:c.2047G>A	ENSP00000261769.4:p.Val683Ile
ENST00000422392.6:c.1864G>A	ENSP00000414946.2:p.Val622Ile
ENST00000562118.1:n.265G>A
ENST00000562836.5:n.2118G>A
ENST00000566510.5:c.*713G>A	ENSP00000458139.1:n.*713G>A
ENST00000566612.5:c.*287G>A	ENSP00000454782.1:n.*287G>A
ENST00000611625.4:c.2110G>A	ENSP00000481063.1:p.Val704Ile
ENST00000612417.4:c.1830+1390G>A	ENSP00000478360.1:n.1830+1390G>A
ENST00000621016.4:c.1865+1355G>A	ENSP00000480664.1:n.1865+1355G>A
XM_011523488.1:c.1312G>A	XP_011521790.1:p.Val438Ile
XM_011523489.1:c.1312G>A	XP_011521791.1:p.Val438Ile