Canonical Allele Identifier: CA496393222

Gene: CDH1

Linked Data

• dbSNP Id: rs2152139529
• MyVariant Identifiers: chr16:g.68857447C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823544C>A , CM000678.2:g.68823544C>A	GRCh38
NC_000016.9:g.68857447C>A , CM000678.1:g.68857447C>A	GRCh37
NC_000016.8:g.67414948C>A	NCBI36
NG_008021.1:g.91253C>A , LRG_301:g.91253C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2082C>A MANE Select	ENSP00000261769.4:p.Val694=
ENST00000261769.9:c.2082C>A	ENSP00000261769.4:p.Val694=
ENST00000422392.6:c.1899C>A	ENSP00000414946.2:p.Val633=
ENST00000562118.1:n.300C>A
ENST00000562836.5:n.2153C>A
ENST00000566510.5:c.*748C>A	ENSP00000458139.1:n.*748C>A
ENST00000566612.5:c.*322C>A	ENSP00000454782.1:n.*322C>A
ENST00000611625.4:c.2145C>A	ENSP00000481063.1:p.Val715=
ENST00000612417.4:c.1830+1425C>A	ENSP00000478360.1:n.1830+1425C>A
ENST00000621016.4:c.1865+1390C>A	ENSP00000480664.1:n.1865+1390C>A
NM_004360.3:c.2082C>A , LRG_301t1:c.2082C>A	NP_004351.1:p.Val694=
XM_011523488.1:c.1347C>A	XP_011521790.1:p.Val449=
XM_011523489.1:c.1347C>A	XP_011521791.1:p.Val449=
NM_001317184.1:c.1899C>A	NP_001304113.1:p.Val633=
NM_001317185.1:c.534C>A	NP_001304114.1:p.Val178=
NM_001317186.1:c.117C>A	NP_001304115.1:p.Val39=
NM_004360.4:c.2082C>A	NP_004351.1:p.Val694=
NM_004360.5:c.2082C>A MANE Select	NP_004351.1:p.Val694=
NM_001317184.2:c.1899C>A	NP_001304113.1:p.Val633=
NM_001317185.2:c.534C>A	NP_001304114.1:p.Val178=
NM_001317186.2:c.117C>A	NP_001304115.1:p.Val39=