Canonical Allele Identifier: CA496393107

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1086182
• ClinVar RCV Id: RCV001403875
• dbSNP Id: rs2152139367
• MyVariant Identifiers: chr16:g.68857369G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823466G>A , CM000678.2:g.68823466G>A	GRCh38
NC_000016.9:g.68857369G>A , CM000678.1:g.68857369G>A	GRCh37
NC_000016.8:g.67414870G>A	NCBI36
NG_008021.1:g.91175G>A , LRG_301:g.91175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2004G>A MANE Select	ENSP00000261769.4:p.Lys668=
ENST00000261769.9:c.2004G>A	ENSP00000261769.4:p.Lys668=
ENST00000422392.6:c.1821G>A	ENSP00000414946.2:p.Lys607=
ENST00000562118.1:n.222G>A
ENST00000562836.5:n.2075G>A
ENST00000566510.5:c.*670G>A	ENSP00000458139.1:n.*670G>A
ENST00000566612.5:c.*244G>A	ENSP00000454782.1:n.*244G>A
ENST00000611625.4:c.2067G>A	ENSP00000481063.1:p.Lys689=
ENST00000612417.4:c.1830+1347G>A	ENSP00000478360.1:n.1830+1347G>A
ENST00000621016.4:c.1865+1312G>A	ENSP00000480664.1:n.1865+1312G>A
NM_004360.3:c.2004G>A , LRG_301t1:c.2004G>A	NP_004351.1:p.Lys668=
XM_011523488.1:c.1269G>A	XP_011521790.1:p.Lys423=
XM_011523489.1:c.1269G>A	XP_011521791.1:p.Lys423=
NM_001317184.1:c.1821G>A	NP_001304113.1:p.Lys607=
NM_001317185.1:c.456G>A	NP_001304114.1:p.Lys152=
NM_001317186.1:c.39G>A	NP_001304115.1:p.Lys13=
NM_004360.4:c.2004G>A	NP_004351.1:p.Lys668=
NM_004360.5:c.2004G>A MANE Select	NP_004351.1:p.Lys668=
NM_001317184.2:c.1821G>A	NP_001304113.1:p.Lys607=
NM_001317185.2:c.456G>A	NP_001304114.1:p.Lys152=
NM_001317186.2:c.39G>A	NP_001304115.1:p.Lys13=