Canonical Allele Identifier: CA396467812

Gene: CDH1

Linked Data

• dbSNP Id: rs2152139528
• MyVariant Identifiers: chr16:g.68857446T>C (hg19) ; chr16:g.68823543T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823543T>C , CM000678.2:g.68823543T>C	GRCh38
NC_000016.9:g.68857446T>C , CM000678.1:g.68857446T>C	GRCh37
NC_000016.8:g.67414947T>C	NCBI36
NG_008021.1:g.91252T>C , LRG_301:g.91252T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2081T>C MANE Select	ENSP00000261769.4:p.Val694Ala
ENST00000261769.9:c.2081T>C	ENSP00000261769.4:p.Val694Ala
ENST00000422392.6:c.1898T>C	ENSP00000414946.2:p.Val633Ala
ENST00000562118.1:n.299T>C
ENST00000562836.5:n.2152T>C
ENST00000566510.5:c.*747T>C	ENSP00000458139.1:n.*747T>C
ENST00000566612.5:c.*321T>C	ENSP00000454782.1:n.*321T>C
ENST00000611625.4:c.2144T>C	ENSP00000481063.1:p.Val715Ala
ENST00000612417.4:c.1830+1424T>C	ENSP00000478360.1:n.1830+1424T>C
ENST00000621016.4:c.1865+1389T>C	ENSP00000480664.1:n.1865+1389T>C
NM_004360.3:c.2081T>C , LRG_301t1:c.2081T>C	NP_004351.1:p.Val694Ala
XM_011523488.1:c.1346T>C	XP_011521790.1:p.Val449Ala
XM_011523489.1:c.1346T>C	XP_011521791.1:p.Val449Ala
NM_001317184.1:c.1898T>C	NP_001304113.1:p.Val633Ala
NM_001317185.1:c.533T>C	NP_001304114.1:p.Val178Ala
NM_001317186.1:c.116T>C	NP_001304115.1:p.Val39Ala
NM_004360.4:c.2081T>C	NP_004351.1:p.Val694Ala
NM_004360.5:c.2081T>C MANE Select	NP_004351.1:p.Val694Ala
NM_001317184.2:c.1898T>C	NP_001304113.1:p.Val633Ala
NM_001317185.2:c.533T>C	NP_001304114.1:p.Val178Ala
NM_001317186.2:c.116T>C	NP_001304115.1:p.Val39Ala