Canonical Allele Identifier: CA396472069

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2823741
• ClinVar RCV Id: RCV003625392
• dbSNP Id: rs1961534415
• MyVariant Identifiers: chr16:g.68867229C>A (hg19) ; chr16:g.68833326C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2476C>A MANE Select	ENSP00000261769.4:p.Pro826Thr
ENST00000261769.9:c.2476C>A	ENSP00000261769.4:p.Pro826Thr
ENST00000422392.6:c.2293C>A	ENSP00000414946.2:p.Pro765Thr
ENST00000562118.1:n.694C>A
ENST00000562836.5:n.2547C>A
ENST00000566510.5:c.*1142C>A	ENSP00000458139.1:n.*1142C>A
ENST00000566612.5:c.*716C>A	ENSP00000454782.1:n.*716C>A
ENST00000611625.4:c.2539C>A	ENSP00000481063.1:p.Pro847Thr
ENST00000612417.4:c.1854-865C>A	ENSP00000478360.1:n.1854-865C>A
ENST00000621016.4:c.1866-877C>A	ENSP00000480664.1:n.1866-877C>A
NM_004360.3:c.2476C>A , LRG_301t1:c.2476C>A	NP_004351.1:p.Pro826Thr
XM_011523488.1:c.1741C>A	XP_011521790.1:p.Pro581Thr
XM_011523489.1:c.1741C>A	XP_011521791.1:p.Pro581Thr
NM_001317184.1:c.2293C>A	NP_001304113.1:p.Pro765Thr
NM_001317185.1:c.928C>A	NP_001304114.1:p.Pro310Thr
NM_001317186.1:c.511C>A	NP_001304115.1:p.Pro171Thr
NM_004360.4:c.2476C>A	NP_004351.1:p.Pro826Thr
NM_004360.5:c.2476C>A MANE Select	NP_004351.1:p.Pro826Thr
NM_001317184.2:c.2293C>A	NP_001304113.1:p.Pro765Thr
NM_001317185.2:c.928C>A	NP_001304114.1:p.Pro310Thr
NM_001317186.2:c.511C>A	NP_001304115.1:p.Pro171Thr