Canonical Allele Identifier: CA396465309

Gene: CDH1

Linked Data

• dbSNP Id: rs2152136951
• COSMIC: COSM972790
• MyVariant Identifiers: chr16:g.68853288G>T (hg19) ; chr16:g.68819385G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819385G>T , CM000678.2:g.68819385G>T	GRCh38
NC_000016.9:g.68853288G>T , CM000678.1:g.68853288G>T	GRCh37
NC_000016.8:g.67410789G>T	NCBI36
NG_008021.1:g.87094G>T , LRG_301:g.87094G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1671G>T MANE Select	ENSP00000261769.4:p.Lys557Asn
ENST00000261769.9:c.1671G>T	ENSP00000261769.4:p.Lys557Asn
ENST00000422392.6:c.1488G>T	ENSP00000414946.2:p.Lys496Asn
ENST00000562836.5:n.1742G>T
ENST00000566510.5:c.*337G>T	ENSP00000458139.1:n.*337G>T
ENST00000566612.5:c.1566-2616G>T	ENSP00000454782.1:n.1566-2616G>T
ENST00000611625.4:c.1734G>T	ENSP00000481063.1:p.Lys578Asn
ENST00000612417.4:c.1671G>T	ENSP00000478360.1:p.Lys557Asn
ENST00000621016.4:c.1671G>T	ENSP00000480664.1:p.Lys557Asn
NM_004360.3:c.1671G>T , LRG_301t1:c.1671G>T	NP_004351.1:p.Lys557Asn
XM_011523488.1:c.936G>T	XP_011521790.1:p.Lys312Asn
XM_011523489.1:c.936G>T	XP_011521791.1:p.Lys312Asn
NM_001317184.1:c.1488G>T	NP_001304113.1:p.Lys496Asn
NM_001317185.1:c.123G>T	NP_001304114.1:p.Lys41Asn
NM_001317186.1:c.-254-2616G>T	NP_001304115.1:n.-254-2616G>T
NM_004360.4:c.1671G>T	NP_004351.1:p.Lys557Asn
NM_004360.5:c.1671G>T MANE Select	NP_004351.1:p.Lys557Asn
NM_001317184.2:c.1488G>T	NP_001304113.1:p.Lys496Asn
NM_001317185.2:c.123G>T	NP_001304114.1:p.Lys41Asn
NM_001317186.2:c.-254-2616G>T	NP_001304115.1:n.-254-2616G>T