Canonical Allele Identifier: CA396470094
Gene: CDH1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68828296G>A , CM000678.2:g.68828296G>A GRCh38
NC_000016.9:g.68862199G>A , CM000678.1:g.68862199G>A GRCh37
NC_000016.8:g.67419700G>A NCBI36
NG_008021.1:g.96005G>A , LRG_301:g.96005G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2287G>A MANE Select ENSP00000261769.4:p.Glu763Lys
ENST00000261769.9:c.2287G>A ENSP00000261769.4:p.Glu763Lys
ENST00000422392.6:c.2104G>A ENSP00000414946.2:p.Glu702Lys
ENST00000562118.1:n.505G>A
ENST00000562836.5:n.2358G>A
ENST00000566510.5:c.*953G>A ENSP00000458139.1:n.*953G>A
ENST00000566612.5:c.*527G>A ENSP00000454782.1:n.*527G>A
ENST00000611625.4:c.2350G>A ENSP00000481063.1:p.Glu784Lys
ENST00000612417.4:c.1853+1742G>A ENSP00000478360.1:n.1853+1742G>A
ENST00000621016.4:c.1866-5907G>A ENSP00000480664.1:n.1866-5907G>A
NM_004360.3:c.2287G>A , LRG_301t1:c.2287G>A NP_004351.1:p.Glu763Lys
XM_011523488.1:c.1552G>A XP_011521790.1:p.Glu518Lys
XM_011523489.1:c.1552G>A XP_011521791.1:p.Glu518Lys
NM_001317184.1:c.2104G>A NP_001304113.1:p.Glu702Lys
NM_001317185.1:c.739G>A NP_001304114.1:p.Glu247Lys
NM_001317186.1:c.322G>A NP_001304115.1:p.Glu108Lys
NM_004360.4:c.2287G>A NP_004351.1:p.Glu763Lys
NM_004360.5:c.2287G>A MANE Select NP_004351.1:p.Glu763Lys
NM_001317184.2:c.2104G>A NP_001304113.1:p.Glu702Lys
NM_001317185.2:c.739G>A NP_001304114.1:p.Glu247Lys
NM_001317186.2:c.322G>A NP_001304115.1:p.Glu108Lys