Canonical Allele Identifier: CA396459677
Community Standard Title: NM_004360.5(CDH1):c.900C>G (p.Ile300Met)
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68811751C>G , CM000678.2:g.68811751C>G GRCh38
NC_000016.9:g.68845654C>G , CM000678.1:g.68845654C>G GRCh37
NC_000016.8:g.67403155C>G NCBI36
NG_008021.1:g.79460C>G , LRG_301:g.79460C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.900C>G MANE Select NP_004351.1:p.Ile300Met
ENST00000261769.10:c.900C>G MANE Select ENSP00000261769.4:p.Ile300Met
NM_001317184.1:c.900C>G NP_001304113.1:p.Ile300Met
NM_001317184.2:c.900C>G NP_001304113.1:p.Ile300Met
NM_001317185.1:c.-716C>G NP_001304114.1:n.-716C>G
NM_001317185.2:c.-716C>G NP_001304114.1:n.-716C>G
NM_001317186.1:c.-920C>G NP_001304115.1:n.-920C>G
NM_001317186.2:c.-920C>G NP_001304115.1:n.-920C>G
NM_004360.3:c.900C>G , LRG_301t1:c.900C>G NP_004351.1:p.Ile300Met
NM_004360.4:c.900C>G NP_004351.1:p.Ile300Met
ENST00000261769.9:c.900C>G ENSP00000261769.4:p.Ile300Met
ENST00000422392.6:c.900C>G ENSP00000414946.2:p.Ile300Met
ENST00000561751.1:c.522C>G
ENST00000562836.5:n.971C>G
ENST00000566510.5:c.744C>G ENSP00000458139.1:p.Ile248Met
ENST00000566612.5:c.900C>G ENSP00000454782.1:p.Ile300Met
ENST00000611625.4:c.900C>G ENSP00000481063.1:p.Ile300Met
ENST00000612417.4:c.900C>G ENSP00000478360.1:p.Ile300Met
ENST00000621016.4:c.900C>G ENSP00000480664.1:p.Ile300Met
XM_011523488.1:c.165C>G XP_011521790.1:p.Ile55Met
XM_011523489.1:c.165C>G XP_011521791.1:p.Ile55Met