Canonical Allele Identifier: CA2229944001
Community Standard Title: NM_004360.5(CDH1):c.1147C= (p.Gln383=)
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68813322C= , CM000678.2:g.68813322C= GRCh38
NC_000016.9:g.68847225C= , CM000678.1:g.68847225C= GRCh37
NC_000016.8:g.67404726C= NCBI36
NG_008021.1:g.81031C= , LRG_301:g.81031C=

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.1147C= MANE Select NP_004351.1:p.Gln383=
ENST00000261769.10:c.1147C= MANE Select ENSP00000261769.4:p.Gln383=
NM_001317184.1:c.1137+1059C= NP_001304113.1:n.1137+1059C=
NM_001317184.2:c.1137+1059C= NP_001304113.1:n.1137+1059C=
NM_001317185.1:c.-469C= NP_001304114.1:n.-469C=
NM_001317185.2:c.-469C= NP_001304114.1:n.-469C=
NM_001317186.1:c.-673C= NP_001304115.1:n.-673C=
NM_001317186.2:c.-673C= NP_001304115.1:n.-673C=
NM_004360.3:c.1147C= , LRG_301t1:c.1147C= NP_004351.1:p.Gln383=
NM_004360.4:c.1147C= NP_004351.1:p.Gln383=
ENST00000261769.9:c.1147C= ENSP00000261769.4:p.Gln383=
ENST00000422392.6:c.1137+1059C= ENSP00000414946.2:n.1137+1059C=
ENST00000562836.5:n.1218C=
ENST00000565810.1:n.191C=
ENST00000566510.5:c.991C= ENSP00000458139.1:p.Gln331=
ENST00000566612.5:c.1147C= ENSP00000454782.1:p.Gln383=
ENST00000611625.4:c.1147C= ENSP00000481063.1:p.Gln383=
ENST00000612417.4:c.1147C= ENSP00000478360.1:p.Gln383=
ENST00000621016.4:c.1147C= ENSP00000480664.1:p.Gln383=
XM_011523488.1:c.412C= XP_011521790.1:p.Gln138=
XM_011523489.1:c.412C= XP_011521791.1:p.Gln138=