Canonical Allele Identifier: CA2229983248
Community Standard Title: NM_004360.5(CDH1):c.2095C= (p.Gln699=)
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823557C= , CM000678.2:g.68823557C= GRCh38
NC_000016.9:g.68857460C= , CM000678.1:g.68857460C= GRCh37
NC_000016.8:g.67414961C= NCBI36
NG_008021.1:g.91266C= , LRG_301:g.91266C=

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.2095C= MANE Select NP_004351.1:p.Gln699=
ENST00000261769.10:c.2095C= MANE Select ENSP00000261769.4:p.Gln699=
NM_001317184.1:c.1912C= NP_001304113.1:p.Gln638=
NM_001317184.2:c.1912C= NP_001304113.1:p.Gln638=
NM_001317185.1:c.547C= NP_001304114.1:p.Gln183=
NM_001317185.2:c.547C= NP_001304114.1:p.Gln183=
NM_001317186.1:c.130C= NP_001304115.1:p.Gln44=
NM_001317186.2:c.130C= NP_001304115.1:p.Gln44=
NM_004360.3:c.2095C= , LRG_301t1:c.2095C= NP_004351.1:p.Gln699=
NM_004360.4:c.2095C= NP_004351.1:p.Gln699=
ENST00000261769.9:c.2095C= ENSP00000261769.4:p.Gln699=
ENST00000422392.6:c.1912C= ENSP00000414946.2:p.Gln638=
ENST00000562118.1:n.313C=
ENST00000562836.5:n.2166C=
ENST00000566510.5:c.*761C= ENSP00000458139.1:n.*761C=
ENST00000566612.5:c.*335C= ENSP00000454782.1:n.*335C=
ENST00000611625.4:c.2158C= ENSP00000481063.1:p.Gln720=
ENST00000612417.4:c.1830+1438C= ENSP00000478360.1:n.1830+1438C=
ENST00000621016.4:c.1865+1403C= ENSP00000480664.1:n.1865+1403C=
XM_011523488.1:c.1360C= XP_011521790.1:p.Gln454=
XM_011523489.1:c.1360C= XP_011521791.1:p.Gln454=