Canonical Allele Identifier: CA298992

Gene: CDH1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815671G>C , CM000678.2:g.68815671G>C	GRCh38
NC_000016.9:g.68849574G>C , CM000678.1:g.68849574G>C	GRCh37
NC_000016.8:g.67407075G>C	NCBI36
NG_008021.1:g.83380G>C , LRG_301:g.83380G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004360.5:c.1477G>C MANE Select	NP_004351.1:p.Val493Leu
ENST00000261769.10:c.1477G>C MANE Select	ENSP00000261769.4:p.Val493Leu
NM_001317184.1:c.1294G>C	NP_001304113.1:p.Val432Leu
NM_001317184.2:c.1294G>C	NP_001304113.1:p.Val432Leu
NM_001317185.1:c.-72G>C	NP_001304114.1:n.-72G>C
NM_001317185.2:c.-72G>C	NP_001304114.1:n.-72G>C
NM_001317186.1:c.-343G>C	NP_001304115.1:n.-343G>C
NM_001317186.2:c.-343G>C	NP_001304115.1:n.-343G>C
NM_004360.3:c.1477G>C , LRG_301t1:c.1477G>C	NP_004351.1:p.Val493Leu
NM_004360.4:c.1477G>C	NP_004351.1:p.Val493Leu
ENST00000261769.9:c.1477G>C	ENSP00000261769.4:p.Val493Leu
ENST00000422392.6:c.1294G>C	ENSP00000414946.2:p.Val432Leu
ENST00000562836.5:n.1548G>C
ENST00000566510.5:c.*143G>C	ENSP00000458139.1:n.*143G>C
ENST00000566612.5:c.1477G>C	ENSP00000454782.1:p.Val493Leu
ENST00000611625.4:c.1540G>C	ENSP00000481063.1:p.Val514Leu
ENST00000612417.4:c.1477G>C	ENSP00000478360.1:p.Val493Leu
ENST00000621016.4:c.1477G>C	ENSP00000480664.1:p.Val493Leu
XM_011523488.1:c.742G>C	XP_011521790.1:p.Val248Leu
XM_011523489.1:c.742G>C	XP_011521791.1:p.Val248Leu