Canonical Allele Identifier: CA283312072
Community Standard Title: NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822132A>G , CM000678.2:g.68822132A>G GRCh38
NC_000016.9:g.68856035A>G , CM000678.1:g.68856035A>G GRCh37
NC_000016.8:g.67413536A>G NCBI36
NG_008021.1:g.89841A>G , LRG_301:g.89841A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.1843A>G MANE Select NP_004351.1:p.Ile615Val
ENST00000261769.10:c.1843A>G MANE Select ENSP00000261769.4:p.Ile615Val
NM_001317184.1:c.1660A>G NP_001304113.1:p.Ile554Val
NM_001317184.2:c.1660A>G NP_001304113.1:p.Ile554Val
NM_001317185.1:c.295A>G NP_001304114.1:p.Ile99Val
NM_001317185.2:c.295A>G NP_001304114.1:p.Ile99Val
NM_001317186.1:c.-123A>G NP_001304115.1:n.-123A>G
NM_001317186.2:c.-123A>G NP_001304115.1:n.-123A>G
NM_004360.3:c.1843A>G , LRG_301t1:c.1843A>G NP_004351.1:p.Ile615Val
NM_004360.4:c.1843A>G NP_004351.1:p.Ile615Val
ENST00000261769.9:c.1843A>G ENSP00000261769.4:p.Ile615Val
ENST00000422392.6:c.1660A>G ENSP00000414946.2:p.Ile554Val
ENST00000562836.5:n.1914A>G
ENST00000566510.5:c.*509A>G ENSP00000458139.1:n.*509A>G
ENST00000566612.5:c.*83A>G ENSP00000454782.1:n.*83A>G
ENST00000611625.4:c.1906A>G ENSP00000481063.1:p.Ile636Val
ENST00000612417.4:c.1830+13A>G ENSP00000478360.1:n.1830+13A>G
ENST00000621016.4:c.1843A>G ENSP00000480664.1:p.Ile615Val
XM_011523488.1:c.1108A>G XP_011521790.1:p.Ile370Val
XM_011523489.1:c.1108A>G XP_011521791.1:p.Ile370Val