Canonical Allele Identifier: CA496392682

Gene: CDH1

Linked Data

• ClinVar Variation Id: 508500
• ClinVar RCV Id: RCV000612098
• dbSNP Id: rs1555516861
• MyVariant Identifiers: chr16:g.68856031C>T (hg19) ; chr16:g.68822128C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822128C>T , CM000678.2:g.68822128C>T	GRCh38
NC_000016.9:g.68856031C>T , CM000678.1:g.68856031C>T	GRCh37
NC_000016.8:g.67413532C>T	NCBI36
NG_008021.1:g.89837C>T , LRG_301:g.89837C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1839C>T MANE Select	ENSP00000261769.4:p.Asn613=
ENST00000261769.9:c.1839C>T	ENSP00000261769.4:p.Asn613=
ENST00000422392.6:c.1656C>T	ENSP00000414946.2:p.Asn552=
ENST00000562836.5:n.1910C>T
ENST00000566510.5:c.*505C>T	ENSP00000458139.1:n.*505C>T
ENST00000566612.5:c.*79C>T	ENSP00000454782.1:n.*79C>T
ENST00000611625.4:c.1902C>T	ENSP00000481063.1:p.Asn634=
ENST00000612417.4:c.1830+9C>T	ENSP00000478360.1:n.1830+9C>T
ENST00000621016.4:c.1839C>T	ENSP00000480664.1:p.Asn613=
NM_004360.3:c.1839C>T , LRG_301t1:c.1839C>T	NP_004351.1:p.Asn613=
XM_011523488.1:c.1104C>T	XP_011521790.1:p.Asn368=
XM_011523489.1:c.1104C>T	XP_011521791.1:p.Asn368=
NM_001317184.1:c.1656C>T	NP_001304113.1:p.Asn552=
NM_001317185.1:c.291C>T	NP_001304114.1:p.Asn97=
NM_001317186.1:c.-127C>T	NP_001304115.1:n.-127C>T
NM_004360.4:c.1839C>T	NP_004351.1:p.Asn613=
NM_004360.5:c.1839C>T MANE Select	NP_004351.1:p.Asn613=
NM_001317184.2:c.1656C>T	NP_001304113.1:p.Asn552=
NM_001317185.2:c.291C>T	NP_001304114.1:p.Asn97=
NM_001317186.2:c.-127C>T	NP_001304115.1:n.-127C>T