Canonical Allele Identifier: CA396464877

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2567617
• ClinVar RCV Id: RCV003311330
• MyVariant Identifiers: chr16:g.68853200A>C (hg19) ; chr16:g.68819297A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819297A>C , CM000678.2:g.68819297A>C	GRCh38
NC_000016.9:g.68853200A>C , CM000678.1:g.68853200A>C	GRCh37
NC_000016.8:g.67410701A>C	NCBI36
NG_008021.1:g.87006A>C , LRG_301:g.87006A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1583A>C MANE Select	ENSP00000261769.4:p.Asp528Ala
ENST00000261769.9:c.1583A>C	ENSP00000261769.4:p.Asp528Ala
ENST00000422392.6:c.1400A>C	ENSP00000414946.2:p.Asp467Ala
ENST00000562836.5:n.1654A>C
ENST00000566510.5:c.*249A>C	ENSP00000458139.1:n.*249A>C
ENST00000566612.5:c.1566-2704A>C	ENSP00000454782.1:n.1566-2704A>C
ENST00000611625.4:c.1646A>C	ENSP00000481063.1:p.Asp549Ala
ENST00000612417.4:c.1583A>C	ENSP00000478360.1:p.Asp528Ala
ENST00000621016.4:c.1583A>C	ENSP00000480664.1:p.Asp528Ala
NM_004360.3:c.1583A>C , LRG_301t1:c.1583A>C	NP_004351.1:p.Asp528Ala
XM_011523488.1:c.848A>C	XP_011521790.1:p.Asp283Ala
XM_011523489.1:c.848A>C	XP_011521791.1:p.Asp283Ala
NM_001317184.1:c.1400A>C	NP_001304113.1:p.Asp467Ala
NM_001317185.1:c.35A>C	NP_001304114.1:p.Asp12Ala
NM_001317186.1:c.-254-2704A>C	NP_001304115.1:n.-254-2704A>C
NM_004360.4:c.1583A>C	NP_004351.1:p.Asp528Ala
NM_004360.5:c.1583A>C MANE Select	NP_004351.1:p.Asp528Ala
NM_001317184.2:c.1400A>C	NP_001304113.1:p.Asp467Ala
NM_001317185.2:c.35A>C	NP_001304114.1:p.Asp12Ala
NM_001317186.2:c.-254-2704A>C	NP_001304115.1:n.-254-2704A>C