Canonical Allele Identifier: CA396467782

Gene: CDH1

Linked Data

• MyVariant Identifiers: chr16:g.68857430G>A (hg19) ; chr16:g.68823527G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823527G>A , CM000678.2:g.68823527G>A	GRCh38
NC_000016.9:g.68857430G>A , CM000678.1:g.68857430G>A	GRCh37
NC_000016.8:g.67414931G>A	NCBI36
NG_008021.1:g.91236G>A , LRG_301:g.91236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2065G>A MANE Select	ENSP00000261769.4:p.Glu689Lys
ENST00000261769.9:c.2065G>A	ENSP00000261769.4:p.Glu689Lys
ENST00000422392.6:c.1882G>A	ENSP00000414946.2:p.Glu628Lys
ENST00000562118.1:n.283G>A
ENST00000562836.5:n.2136G>A
ENST00000566510.5:c.*731G>A	ENSP00000458139.1:n.*731G>A
ENST00000566612.5:c.*305G>A	ENSP00000454782.1:n.*305G>A
ENST00000611625.4:c.2128G>A	ENSP00000481063.1:p.Glu710Lys
ENST00000612417.4:c.1830+1408G>A	ENSP00000478360.1:n.1830+1408G>A
ENST00000621016.4:c.1865+1373G>A	ENSP00000480664.1:n.1865+1373G>A
NM_004360.3:c.2065G>A , LRG_301t1:c.2065G>A	NP_004351.1:p.Glu689Lys
XM_011523488.1:c.1330G>A	XP_011521790.1:p.Glu444Lys
XM_011523489.1:c.1330G>A	XP_011521791.1:p.Glu444Lys
NM_001317184.1:c.1882G>A	NP_001304113.1:p.Glu628Lys
NM_001317185.1:c.517G>A	NP_001304114.1:p.Glu173Lys
NM_001317186.1:c.100G>A	NP_001304115.1:p.Glu34Lys
NM_004360.4:c.2065G>A	NP_004351.1:p.Glu689Lys
NM_004360.5:c.2065G>A MANE Select	NP_004351.1:p.Glu689Lys
NM_001317184.2:c.1882G>A	NP_001304113.1:p.Glu628Lys
NM_001317185.2:c.517G>A	NP_001304114.1:p.Glu173Lys
NM_001317186.2:c.100G>A	NP_001304115.1:p.Glu34Lys