Canonical Allele Identifier: CA396469471
Gene: CDH1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68828204G>C , CM000678.2:g.68828204G>C GRCh38
NC_000016.9:g.68862107G>C , CM000678.1:g.68862107G>C GRCh37
NC_000016.8:g.67419608G>C NCBI36
NG_008021.1:g.95913G>C , LRG_301:g.95913G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2195G>C MANE Select ENSP00000261769.4:p.Arg732Pro
ENST00000261769.9:c.2195G>C ENSP00000261769.4:p.Arg732Pro
ENST00000422392.6:c.2012G>C ENSP00000414946.2:p.Arg671Pro
ENST00000562118.1:n.413G>C
ENST00000562836.5:n.2266G>C
ENST00000566510.5:c.*861G>C ENSP00000458139.1:n.*861G>C
ENST00000566612.5:c.*435G>C ENSP00000454782.1:n.*435G>C
ENST00000611625.4:c.2258G>C ENSP00000481063.1:p.Arg753Pro
ENST00000612417.4:c.1853+1650G>C ENSP00000478360.1:n.1853+1650G>C
ENST00000621016.4:c.1866-5999G>C ENSP00000480664.1:n.1866-5999G>C
NM_004360.3:c.2195G>C , LRG_301t1:c.2195G>C NP_004351.1:p.Arg732Pro
XM_011523488.1:c.1460G>C XP_011521790.1:p.Arg487Pro
XM_011523489.1:c.1460G>C XP_011521791.1:p.Arg487Pro
NM_001317184.1:c.2012G>C NP_001304113.1:p.Arg671Pro
NM_001317185.1:c.647G>C NP_001304114.1:p.Arg216Pro
NM_001317186.1:c.230G>C NP_001304115.1:p.Arg77Pro
NM_004360.4:c.2195G>C NP_004351.1:p.Arg732Pro
NM_004360.5:c.2195G>C MANE Select NP_004351.1:p.Arg732Pro
NM_001317184.2:c.2012G>C NP_001304113.1:p.Arg671Pro
NM_001317185.2:c.647G>C NP_001304114.1:p.Arg216Pro
NM_001317186.2:c.230G>C NP_001304115.1:p.Arg77Pro