Canonical Allele Identifier: CA396471122

Gene: CDH1

Linked Data

• dbSNP Id: rs1357766058
• MyVariant Identifiers: chr16:g.68863639G>C (hg19) ; chr16:g.68829736G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829736G>C , CM000678.2:g.68829736G>C	GRCh38
NC_000016.9:g.68863639G>C , CM000678.1:g.68863639G>C	GRCh37
NC_000016.8:g.67421140G>C	NCBI36
NG_008021.1:g.97445G>C , LRG_301:g.97445G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2378G>C MANE Select	ENSP00000261769.4:p.Ser793Thr
ENST00000261769.9:c.2378G>C	ENSP00000261769.4:p.Ser793Thr
ENST00000422392.6:c.2195G>C	ENSP00000414946.2:p.Ser732Thr
ENST00000562118.1:n.596G>C
ENST00000562836.5:n.2449G>C
ENST00000566510.5:c.*1044G>C	ENSP00000458139.1:n.*1044G>C
ENST00000566612.5:c.*618G>C	ENSP00000454782.1:n.*618G>C
ENST00000611625.4:c.2441G>C	ENSP00000481063.1:p.Ser814Thr
ENST00000612417.4:c.1853+3182G>C	ENSP00000478360.1:n.1853+3182G>C
ENST00000621016.4:c.1866-4467G>C	ENSP00000480664.1:n.1866-4467G>C
NM_004360.3:c.2378G>C , LRG_301t1:c.2378G>C	NP_004351.1:p.Ser793Thr
XM_011523488.1:c.1643G>C	XP_011521790.1:p.Ser548Thr
XM_011523489.1:c.1643G>C	XP_011521791.1:p.Ser548Thr
NM_001317184.1:c.2195G>C	NP_001304113.1:p.Ser732Thr
NM_001317185.1:c.830G>C	NP_001304114.1:p.Ser277Thr
NM_001317186.1:c.413G>C	NP_001304115.1:p.Ser138Thr
NM_004360.4:c.2378G>C	NP_004351.1:p.Ser793Thr
NM_004360.5:c.2378G>C MANE Select	NP_004351.1:p.Ser793Thr
NM_001317184.2:c.2195G>C	NP_001304113.1:p.Ser732Thr
NM_001317185.2:c.830G>C	NP_001304114.1:p.Ser277Thr
NM_001317186.2:c.413G>C	NP_001304115.1:p.Ser138Thr