Canonical Allele Identifier: CA496153928

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1118121
• ClinVar RCV Id: RCV001447133
• dbSNP Id: rs1597897808
• MyVariant Identifiers: chr16:g.68849451C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815548C>T , CM000678.2:g.68815548C>T	GRCh38
NC_000016.9:g.68849451C>T , CM000678.1:g.68849451C>T	GRCh37
NC_000016.8:g.67406952C>T	NCBI36
NG_008021.1:g.83257C>T , LRG_301:g.83257C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1354C>T MANE Select	ENSP00000261769.4:p.Leu452=
ENST00000261769.9:c.1354C>T	ENSP00000261769.4:p.Leu452=
ENST00000422392.6:c.1171C>T	ENSP00000414946.2:p.Leu391=
ENST00000562836.5:n.1425C>T
ENST00000566510.5:c.*20C>T	ENSP00000458139.1:n.*20C>T
ENST00000566612.5:c.1354C>T	ENSP00000454782.1:p.Leu452=
ENST00000611625.4:c.1417C>T	ENSP00000481063.1:p.Leu473=
ENST00000612417.4:c.1354C>T	ENSP00000478360.1:p.Leu452=
ENST00000621016.4:c.1354C>T	ENSP00000480664.1:p.Leu452=
NM_004360.3:c.1354C>T , LRG_301t1:c.1354C>T	NP_004351.1:p.Leu452=
XM_011523488.1:c.619C>T	XP_011521790.1:p.Leu207=
XM_011523489.1:c.619C>T	XP_011521791.1:p.Leu207=
NM_001317184.1:c.1171C>T	NP_001304113.1:p.Leu391=
NM_001317185.1:c.-195C>T	NP_001304114.1:n.-195C>T
NM_001317186.1:c.-466C>T	NP_001304115.1:n.-466C>T
NM_004360.4:c.1354C>T	NP_004351.1:p.Leu452=
NM_004360.5:c.1354C>T MANE Select	NP_004351.1:p.Leu452=
NM_001317184.2:c.1171C>T	NP_001304113.1:p.Leu391=
NM_001317185.2:c.-195C>T	NP_001304114.1:n.-195C>T
NM_001317186.2:c.-466C>T	NP_001304115.1:n.-466C>T