Canonical Allele Identifier: CA396464906

Gene: CDH1

Linked Data

• ClinVar Variation Id: 532449
• ClinVar RCV Id: RCV000639222
• dbSNP Id: rs1555516534
• MyVariant Identifiers: chr16:g.68853205G>C (hg19) ; chr16:g.68819302G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819302G>C , CM000678.2:g.68819302G>C	GRCh38
NC_000016.9:g.68853205G>C , CM000678.1:g.68853205G>C	GRCh37
NC_000016.8:g.67410706G>C	NCBI36
NG_008021.1:g.87011G>C , LRG_301:g.87011G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1588G>C MANE Select	ENSP00000261769.4:p.Ala530Pro
ENST00000261769.9:c.1588G>C	ENSP00000261769.4:p.Ala530Pro
ENST00000422392.6:c.1405G>C	ENSP00000414946.2:p.Ala469Pro
ENST00000562836.5:n.1659G>C
ENST00000566510.5:c.*254G>C	ENSP00000458139.1:n.*254G>C
ENST00000566612.5:c.1566-2699G>C	ENSP00000454782.1:n.1566-2699G>C
ENST00000611625.4:c.1651G>C	ENSP00000481063.1:p.Ala551Pro
ENST00000612417.4:c.1588G>C	ENSP00000478360.1:p.Ala530Pro
ENST00000621016.4:c.1588G>C	ENSP00000480664.1:p.Ala530Pro
NM_004360.3:c.1588G>C , LRG_301t1:c.1588G>C	NP_004351.1:p.Ala530Pro
XM_011523488.1:c.853G>C	XP_011521790.1:p.Ala285Pro
XM_011523489.1:c.853G>C	XP_011521791.1:p.Ala285Pro
NM_001317184.1:c.1405G>C	NP_001304113.1:p.Ala469Pro
NM_001317185.1:c.40G>C	NP_001304114.1:p.Ala14Pro
NM_001317186.1:c.-254-2699G>C	NP_001304115.1:n.-254-2699G>C
NM_004360.4:c.1588G>C	NP_004351.1:p.Ala530Pro
NM_004360.5:c.1588G>C MANE Select	NP_004351.1:p.Ala530Pro
NM_001317184.2:c.1405G>C	NP_001304113.1:p.Ala469Pro
NM_001317185.2:c.40G>C	NP_001304114.1:p.Ala14Pro
NM_001317186.2:c.-254-2699G>C	NP_001304115.1:n.-254-2699G>C