Canonical Allele Identifier: CA164642
Community Standard Title: NM_004360.5(CDH1):c.1927A>G (p.Asn643Asp)
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822216A>G , CM000678.2:g.68822216A>G GRCh38
NC_000016.9:g.68856119A>G , CM000678.1:g.68856119A>G GRCh37
NC_000016.8:g.67413620A>G NCBI36
NG_008021.1:g.89925A>G , LRG_301:g.89925A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.1927A>G MANE Select NP_004351.1:p.Asn643Asp
ENST00000261769.10:c.1927A>G MANE Select ENSP00000261769.4:p.Asn643Asp
NM_001317184.1:c.1744A>G NP_001304113.1:p.Asn582Asp
NM_001317184.2:c.1744A>G NP_001304113.1:p.Asn582Asp
NM_001317185.1:c.379A>G NP_001304114.1:p.Asn127Asp
NM_001317185.2:c.379A>G NP_001304114.1:p.Asn127Asp
NM_001317186.1:c.-39A>G NP_001304115.1:n.-39A>G
NM_001317186.2:c.-39A>G NP_001304115.1:n.-39A>G
NM_004360.3:c.1927A>G , LRG_301t1:c.1927A>G NP_004351.1:p.Asn643Asp
NM_004360.4:c.1927A>G NP_004351.1:p.Asn643Asp
ENST00000261769.9:c.1927A>G ENSP00000261769.4:p.Asn643Asp
ENST00000422392.6:c.1744A>G ENSP00000414946.2:p.Asn582Asp
ENST00000562836.5:n.1998A>G
ENST00000566510.5:c.*593A>G ENSP00000458139.1:n.*593A>G
ENST00000566612.5:c.*167A>G ENSP00000454782.1:n.*167A>G
ENST00000611625.4:c.1990A>G ENSP00000481063.1:p.Asn664Asp
ENST00000612417.4:c.1830+97A>G ENSP00000478360.1:n.1830+97A>G
ENST00000621016.4:c.1865+62A>G ENSP00000480664.1:n.1865+62A>G
XM_011523488.1:c.1192A>G XP_011521790.1:p.Asn398Asp
XM_011523489.1:c.1192A>G XP_011521791.1:p.Asn398Asp