Canonical Allele Identifier: CA396466327

Gene: CDH1

Linked Data

• ClinVar Variation Id: 582764
• ClinVar RCV Id: RCV000706915 ; RCV001012940
• dbSNP Id: rs1567512135
• MyVariant Identifiers: chr16:g.68855925C>T (hg19) ; chr16:g.68822022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822022C>T , CM000678.2:g.68822022C>T	GRCh38
NC_000016.9:g.68855925C>T , CM000678.1:g.68855925C>T	GRCh37
NC_000016.8:g.67413426C>T	NCBI36
NG_008021.1:g.89731C>T , LRG_301:g.89731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1733C>T MANE Select	ENSP00000261769.4:p.Thr578Ile
ENST00000261769.9:c.1733C>T	ENSP00000261769.4:p.Thr578Ile
ENST00000422392.6:c.1550C>T	ENSP00000414946.2:p.Thr517Ile
ENST00000562836.5:n.1804C>T
ENST00000566510.5:c.*399C>T	ENSP00000458139.1:n.*399C>T
ENST00000566612.5:c.1587C>T	ENSP00000454782.1:p.Asn529=
ENST00000611625.4:c.1796C>T	ENSP00000481063.1:p.Thr599Ile
ENST00000612417.4:c.1733C>T	ENSP00000478360.1:p.Thr578Ile
ENST00000621016.4:c.1733C>T	ENSP00000480664.1:p.Thr578Ile
NM_004360.3:c.1733C>T , LRG_301t1:c.1733C>T	NP_004351.1:p.Thr578Ile
XM_011523488.1:c.998C>T	XP_011521790.1:p.Thr333Ile
XM_011523489.1:c.998C>T	XP_011521791.1:p.Thr333Ile
NM_001317184.1:c.1550C>T	NP_001304113.1:p.Thr517Ile
NM_001317185.1:c.185C>T	NP_001304114.1:p.Thr62Ile
NM_001317186.1:c.-233C>T	NP_001304115.1:n.-233C>T
NM_004360.4:c.1733C>T	NP_004351.1:p.Thr578Ile
NM_004360.5:c.1733C>T MANE Select	NP_004351.1:p.Thr578Ile
NM_001317184.2:c.1550C>T	NP_001304113.1:p.Thr517Ile
NM_001317185.2:c.185C>T	NP_001304114.1:p.Thr62Ile
NM_001317186.2:c.-233C>T	NP_001304115.1:n.-233C>T