Canonical Allele Identifier: CA2229969545
Community Standard Title: NM_004360.5(CDH1):c.1018A= (p.Thr340=)
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68812144A= , CM000678.2:g.68812144A= GRCh38
NC_000016.9:g.68846047A= , CM000678.1:g.68846047A= GRCh37
NC_000016.8:g.67403548A= NCBI36
NG_008021.1:g.79853A= , LRG_301:g.79853A=

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.1018A= MANE Select NP_004351.1:p.Thr340=
ENST00000261769.10:c.1018A= MANE Select ENSP00000261769.4:p.Thr340=
NM_001317184.1:c.1018A= NP_001304113.1:p.Thr340=
NM_001317184.2:c.1018A= NP_001304113.1:p.Thr340=
NM_001317185.1:c.-598A= NP_001304114.1:n.-598A=
NM_001317185.2:c.-598A= NP_001304114.1:n.-598A=
NM_001317186.1:c.-802A= NP_001304115.1:n.-802A=
NM_001317186.2:c.-802A= NP_001304115.1:n.-802A=
NM_004360.3:c.1018A= , LRG_301t1:c.1018A= NP_004351.1:p.Thr340=
NM_004360.4:c.1018A= NP_004351.1:p.Thr340=
ENST00000261769.9:c.1018A= ENSP00000261769.4:p.Thr340=
ENST00000422392.6:c.1018A= ENSP00000414946.2:p.Thr340=
ENST00000561751.1:c.640A=
ENST00000562836.5:n.1089A=
ENST00000565810.1:n.62A=
ENST00000566510.5:c.862A= ENSP00000458139.1:p.Thr288=
ENST00000566612.5:c.1018A= ENSP00000454782.1:p.Thr340=
ENST00000611625.4:c.1018A= ENSP00000481063.1:p.Thr340=
ENST00000612417.4:c.1018A= ENSP00000478360.1:p.Thr340=
ENST00000621016.4:c.1018A= ENSP00000480664.1:p.Thr340=
XM_011523488.1:c.283A= XP_011521790.1:p.Thr95=
XM_011523489.1:c.283A= XP_011521791.1:p.Thr95=