Canonical Allele Identifier: CA396472415

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1792967
• ClinVar RCV Id: RCV002433312
• COSMIC: COSM19783
• MyVariant Identifiers: chr16:g.68867305C>T (hg19) ; chr16:g.68833402C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833402C>T , CM000678.2:g.68833402C>T	GRCh38
NC_000016.9:g.68867305C>T , CM000678.1:g.68867305C>T	GRCh37
NC_000016.8:g.67424806C>T	NCBI36
NG_008021.1:g.101111C>T , LRG_301:g.101111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2552C>T MANE Select	ENSP00000261769.4:p.Ser851Leu
ENST00000261769.9:c.2552C>T	ENSP00000261769.4:p.Ser851Leu
ENST00000422392.6:c.2369C>T	ENSP00000414946.2:p.Ser790Leu
ENST00000562118.1:n.770C>T
ENST00000562836.5:n.2623C>T
ENST00000566510.5:c.*1218C>T	ENSP00000458139.1:n.*1218C>T
ENST00000566612.5:c.*792C>T	ENSP00000454782.1:n.*792C>T
ENST00000611625.4:c.2615C>T	ENSP00000481063.1:p.Ser872Leu
ENST00000612417.4:c.1854-789C>T	ENSP00000478360.1:n.1854-789C>T
ENST00000621016.4:c.1866-801C>T	ENSP00000480664.1:n.1866-801C>T
NM_004360.3:c.2552C>T , LRG_301t1:c.2552C>T	NP_004351.1:p.Ser851Leu
XM_011523488.1:c.1817C>T	XP_011521790.1:p.Ser606Leu
XM_011523489.1:c.1817C>T	XP_011521791.1:p.Ser606Leu
NM_001317184.1:c.2369C>T	NP_001304113.1:p.Ser790Leu
NM_001317185.1:c.1004C>T	NP_001304114.1:p.Ser335Leu
NM_001317186.1:c.587C>T	NP_001304115.1:p.Ser196Leu
NM_004360.4:c.2552C>T	NP_004351.1:p.Ser851Leu
NM_004360.5:c.2552C>T MANE Select	NP_004351.1:p.Ser851Leu
NM_001317184.2:c.2369C>T	NP_001304113.1:p.Ser790Leu
NM_001317185.2:c.1004C>T	NP_001304114.1:p.Ser335Leu
NM_001317186.2:c.587C>T	NP_001304115.1:p.Ser196Leu