Canonical Allele Identifier: CA496393227

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2775050
• ClinVar RCV Id: RCV003585098
• MyVariant Identifiers: chr16:g.68867369G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833466G>T , CM000678.2:g.68833466G>T	GRCh38
NC_000016.9:g.68867369G>T , CM000678.1:g.68867369G>T	GRCh37
NC_000016.8:g.67424870G>T	NCBI36
NG_008021.1:g.101175G>T , LRG_301:g.101175G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2616G>T MANE Select	ENSP00000261769.4:p.Leu872=
ENST00000261769.9:c.2616G>T	ENSP00000261769.4:p.Leu872=
ENST00000422392.6:c.2433G>T	ENSP00000414946.2:p.Leu811=
ENST00000562118.1:n.834G>T
ENST00000562836.5:n.2687G>T
ENST00000566510.5:c.*1282G>T	ENSP00000458139.1:n.*1282G>T
ENST00000566612.5:c.*856G>T	ENSP00000454782.1:n.*856G>T
ENST00000611625.4:c.2679G>T	ENSP00000481063.1:p.Leu893=
ENST00000612417.4:c.1854-725G>T	ENSP00000478360.1:n.1854-725G>T
ENST00000621016.4:c.1866-737G>T	ENSP00000480664.1:n.1866-737G>T
NM_004360.3:c.2616G>T , LRG_301t1:c.2616G>T	NP_004351.1:p.Leu872=
XM_011523488.1:c.1881G>T	XP_011521790.1:p.Leu627=
XM_011523489.1:c.1881G>T	XP_011521791.1:p.Leu627=
NM_001317184.1:c.2433G>T	NP_001304113.1:p.Leu811=
NM_001317185.1:c.1068G>T	NP_001304114.1:p.Leu356=
NM_001317186.1:c.651G>T	NP_001304115.1:p.Leu217=
NM_004360.4:c.2616G>T	NP_004351.1:p.Leu872=
NM_004360.5:c.2616G>T MANE Select	NP_004351.1:p.Leu872=
NM_001317184.2:c.2433G>T	NP_001304113.1:p.Leu811=
NM_001317185.2:c.1068G>T	NP_001304114.1:p.Leu356=
NM_001317186.2:c.651G>T	NP_001304115.1:p.Leu217=