Canonical Allele Identifier: CA396464978

Gene: CDH1

Linked Data

• MyVariant Identifiers: chr16:g.68853214C>A (hg19) ; chr16:g.68819311C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819311C>A , CM000678.2:g.68819311C>A	GRCh38
NC_000016.9:g.68853214C>A , CM000678.1:g.68853214C>A	GRCh37
NC_000016.8:g.67410715C>A	NCBI36
NG_008021.1:g.87020C>A , LRG_301:g.87020C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1597C>A MANE Select	ENSP00000261769.4:p.Leu533Met
ENST00000261769.9:c.1597C>A	ENSP00000261769.4:p.Leu533Met
ENST00000422392.6:c.1414C>A	ENSP00000414946.2:p.Leu472Met
ENST00000562836.5:n.1668C>A
ENST00000566510.5:c.*263C>A	ENSP00000458139.1:n.*263C>A
ENST00000566612.5:c.1566-2690C>A	ENSP00000454782.1:n.1566-2690C>A
ENST00000611625.4:c.1660C>A	ENSP00000481063.1:p.Leu554Met
ENST00000612417.4:c.1597C>A	ENSP00000478360.1:p.Leu533Met
ENST00000621016.4:c.1597C>A	ENSP00000480664.1:p.Leu533Met
NM_004360.3:c.1597C>A , LRG_301t1:c.1597C>A	NP_004351.1:p.Leu533Met
XM_011523488.1:c.862C>A	XP_011521790.1:p.Leu288Met
XM_011523489.1:c.862C>A	XP_011521791.1:p.Leu288Met
NM_001317184.1:c.1414C>A	NP_001304113.1:p.Leu472Met
NM_001317185.1:c.49C>A	NP_001304114.1:p.Leu17Met
NM_001317186.1:c.-254-2690C>A	NP_001304115.1:n.-254-2690C>A
NM_004360.4:c.1597C>A	NP_004351.1:p.Leu533Met
NM_004360.5:c.1597C>A MANE Select	NP_004351.1:p.Leu533Met
NM_001317184.2:c.1414C>A	NP_001304113.1:p.Leu472Met
NM_001317185.2:c.49C>A	NP_001304114.1:p.Leu17Met
NM_001317186.2:c.-254-2690C>A	NP_001304115.1:n.-254-2690C>A