Canonical Allele Identifier: CA396472071

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1008491
• ClinVar RCV Id: RCV001305838 ; RCV002447310
• dbSNP Id: rs1961534415
• MyVariant Identifiers: chr16:g.68867229C>T (hg19) ; chr16:g.68833326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833326C>T , CM000678.2:g.68833326C>T	GRCh38
NC_000016.9:g.68867229C>T , CM000678.1:g.68867229C>T	GRCh37
NC_000016.8:g.67424730C>T	NCBI36
NG_008021.1:g.101035C>T , LRG_301:g.101035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2476C>T MANE Select	ENSP00000261769.4:p.Pro826Ser
ENST00000261769.9:c.2476C>T	ENSP00000261769.4:p.Pro826Ser
ENST00000422392.6:c.2293C>T	ENSP00000414946.2:p.Pro765Ser
ENST00000562118.1:n.694C>T
ENST00000562836.5:n.2547C>T
ENST00000566510.5:c.*1142C>T	ENSP00000458139.1:n.*1142C>T
ENST00000566612.5:c.*716C>T	ENSP00000454782.1:n.*716C>T
ENST00000611625.4:c.2539C>T	ENSP00000481063.1:p.Pro847Ser
ENST00000612417.4:c.1854-865C>T	ENSP00000478360.1:n.1854-865C>T
ENST00000621016.4:c.1866-877C>T	ENSP00000480664.1:n.1866-877C>T
NM_004360.3:c.2476C>T , LRG_301t1:c.2476C>T	NP_004351.1:p.Pro826Ser
XM_011523488.1:c.1741C>T	XP_011521790.1:p.Pro581Ser
XM_011523489.1:c.1741C>T	XP_011521791.1:p.Pro581Ser
NM_001317184.1:c.2293C>T	NP_001304113.1:p.Pro765Ser
NM_001317185.1:c.928C>T	NP_001304114.1:p.Pro310Ser
NM_001317186.1:c.511C>T	NP_001304115.1:p.Pro171Ser
NM_004360.4:c.2476C>T	NP_004351.1:p.Pro826Ser
NM_004360.5:c.2476C>T MANE Select	NP_004351.1:p.Pro826Ser
NM_001317184.2:c.2293C>T	NP_001304113.1:p.Pro765Ser
NM_001317185.2:c.928C>T	NP_001304114.1:p.Pro310Ser
NM_001317186.2:c.511C>T	NP_001304115.1:p.Pro171Ser