Canonical Allele Identifier: CA396467579

Gene: CDH1

Linked Data

• MyVariant Identifiers: chr16:g.68857338T>G (hg19) ; chr16:g.68823435T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823435T>G , CM000678.2:g.68823435T>G	GRCh38
NC_000016.9:g.68857338T>G , CM000678.1:g.68857338T>G	GRCh37
NC_000016.8:g.67414839T>G	NCBI36
NG_008021.1:g.91144T>G , LRG_301:g.91144T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1973T>G MANE Select	ENSP00000261769.4:p.Leu658Ter
ENST00000261769.9:c.1973T>G	ENSP00000261769.4:p.Leu658Ter
ENST00000422392.6:c.1790T>G	ENSP00000414946.2:p.Leu597Ter
ENST00000562118.1:n.191T>G
ENST00000562836.5:n.2044T>G
ENST00000566510.5:c.*639T>G	ENSP00000458139.1:n.*639T>G
ENST00000566612.5:c.*213T>G	ENSP00000454782.1:n.*213T>G
ENST00000611625.4:c.2036T>G	ENSP00000481063.1:p.Leu679Ter
ENST00000612417.4:c.1830+1316T>G	ENSP00000478360.1:n.1830+1316T>G
ENST00000621016.4:c.1865+1281T>G	ENSP00000480664.1:n.1865+1281T>G
NM_004360.3:c.1973T>G , LRG_301t1:c.1973T>G	NP_004351.1:p.Leu658Ter
XM_011523488.1:c.1238T>G	XP_011521790.1:p.Leu413Ter
XM_011523489.1:c.1238T>G	XP_011521791.1:p.Leu413Ter
NM_001317184.1:c.1790T>G	NP_001304113.1:p.Leu597Ter
NM_001317185.1:c.425T>G	NP_001304114.1:p.Leu142Ter
NM_001317186.1:c.8T>G	NP_001304115.1:p.Leu3Ter
NM_004360.4:c.1973T>G	NP_004351.1:p.Leu658Ter
NM_004360.5:c.1973T>G MANE Select	NP_004351.1:p.Leu658Ter
NM_001317184.2:c.1790T>G	NP_001304113.1:p.Leu597Ter
NM_001317185.2:c.425T>G	NP_001304114.1:p.Leu142Ter
NM_001317186.2:c.8T>G	NP_001304115.1:p.Leu3Ter