Canonical Allele Identifier: CA2229990217
Community Standard Title: NM_004360.5(CDH1):c.2287G= (p.Glu763=)
Gene: CDH1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.2287G= MANE Select NP_004351.1:p.Glu763=
ENST00000261769.10:c.2287G= MANE Select ENSP00000261769.4:p.Glu763=
NM_001317184.1:c.2104G= NP_001304113.1:p.Glu702=
NM_001317184.2:c.2104G= NP_001304113.1:p.Glu702=
NM_001317185.1:c.739G= NP_001304114.1:p.Glu247=
NM_001317185.2:c.739G= NP_001304114.1:p.Glu247=
NM_001317186.1:c.322G= NP_001304115.1:p.Glu108=
NM_001317186.2:c.322G= NP_001304115.1:p.Glu108=
NM_004360.3:c.2287G= , LRG_301t1:c.2287G= NP_004351.1:p.Glu763=
NM_004360.4:c.2287G= NP_004351.1:p.Glu763=
ENST00000261769.9:c.2287G= ENSP00000261769.4:p.Glu763=
ENST00000422392.6:c.2104G= ENSP00000414946.2:p.Glu702=
ENST00000562118.1:n.505G=
ENST00000562836.5:n.2358G=
ENST00000566510.5:c.*953G= ENSP00000458139.1:n.*953G=
ENST00000566612.5:c.*527G= ENSP00000454782.1:n.*527G=
ENST00000611625.4:c.2350G= ENSP00000481063.1:p.Glu784=
ENST00000612417.4:c.1853+1742G= ENSP00000478360.1:n.1853+1742G=
ENST00000621016.4:c.1866-5907G= ENSP00000480664.1:n.1866-5907G=
XM_011523488.1:c.1552G= XP_011521790.1:p.Glu518=
XM_011523489.1:c.1552G= XP_011521791.1:p.Glu518=