Canonical Allele Identifier: CA396471398

Gene: CDH1

Linked Data

• MyVariant Identifiers: chr16:g.68863699A>C (hg19) ; chr16:g.68829796A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829796A>C , CM000678.2:g.68829796A>C	GRCh38
NC_000016.9:g.68863699A>C , CM000678.1:g.68863699A>C	GRCh37
NC_000016.8:g.67421200A>C	NCBI36
NG_008021.1:g.97505A>C , LRG_301:g.97505A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2438A>C MANE Select	ENSP00000261769.4:p.Glu813Ala
ENST00000261769.9:c.2438A>C	ENSP00000261769.4:p.Glu813Ala
ENST00000422392.6:c.2255A>C	ENSP00000414946.2:p.Glu752Ala
ENST00000562118.1:n.656A>C
ENST00000562836.5:n.2509A>C
ENST00000566510.5:c.*1104A>C	ENSP00000458139.1:n.*1104A>C
ENST00000566612.5:c.*678A>C	ENSP00000454782.1:n.*678A>C
ENST00000611625.4:c.2501A>C	ENSP00000481063.1:p.Glu834Ala
ENST00000612417.4:c.1853+3242A>C	ENSP00000478360.1:n.1853+3242A>C
ENST00000621016.4:c.1866-4407A>C	ENSP00000480664.1:n.1866-4407A>C
NM_004360.3:c.2438A>C , LRG_301t1:c.2438A>C	NP_004351.1:p.Glu813Ala
XM_011523488.1:c.1703A>C	XP_011521790.1:p.Glu568Ala
XM_011523489.1:c.1703A>C	XP_011521791.1:p.Glu568Ala
NM_001317184.1:c.2255A>C	NP_001304113.1:p.Glu752Ala
NM_001317185.1:c.890A>C	NP_001304114.1:p.Glu297Ala
NM_001317186.1:c.473A>C	NP_001304115.1:p.Glu158Ala
NM_004360.4:c.2438A>C	NP_004351.1:p.Glu813Ala
NM_004360.5:c.2438A>C MANE Select	NP_004351.1:p.Glu813Ala
NM_001317184.2:c.2255A>C	NP_001304113.1:p.Glu752Ala
NM_001317185.2:c.890A>C	NP_001304114.1:p.Glu297Ala
NM_001317186.2:c.473A>C	NP_001304115.1:p.Glu158Ala