Canonical Allele Identifier: CA496392337

Gene: CDH1

Linked Data

• ClinVar Variation Id: 800084
• ClinVar RCV Id: RCV000983717 ; RCV002400155
• dbSNP Id: rs876660176
• MyVariant Identifiers: chr16:g.68855908T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822005T>G , CM000678.2:g.68822005T>G	GRCh38
NC_000016.9:g.68855908T>G , CM000678.1:g.68855908T>G	GRCh37
NC_000016.8:g.67413409T>G	NCBI36
NG_008021.1:g.89714T>G , LRG_301:g.89714T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1716T>G MANE Select	ENSP00000261769.4:p.Ser572=
ENST00000261769.9:c.1716T>G	ENSP00000261769.4:p.Ser572=
ENST00000422392.6:c.1533T>G	ENSP00000414946.2:p.Ser511=
ENST00000562836.5:n.1787T>G
ENST00000566510.5:c.*382T>G	ENSP00000458139.1:n.*382T>G
ENST00000566612.5:c.1570T>G	ENSP00000454782.1:p.Ser524Ala
ENST00000611625.4:c.1779T>G	ENSP00000481063.1:p.Ser593=
ENST00000612417.4:c.1716T>G	ENSP00000478360.1:p.Ser572=
ENST00000621016.4:c.1716T>G	ENSP00000480664.1:p.Ser572=
NM_004360.3:c.1716T>G , LRG_301t1:c.1716T>G	NP_004351.1:p.Ser572=
XM_011523488.1:c.981T>G	XP_011521790.1:p.Ser327=
XM_011523489.1:c.981T>G	XP_011521791.1:p.Ser327=
NM_001317184.1:c.1533T>G	NP_001304113.1:p.Ser511=
NM_001317185.1:c.168T>G	NP_001304114.1:p.Ser56=
NM_001317186.1:c.-250T>G	NP_001304115.1:n.-250T>G
NM_004360.4:c.1716T>G	NP_004351.1:p.Ser572=
NM_004360.5:c.1716T>G MANE Select	NP_004351.1:p.Ser572=
NM_001317184.2:c.1533T>G	NP_001304113.1:p.Ser511=
NM_001317185.2:c.168T>G	NP_001304114.1:p.Ser56=
NM_001317186.2:c.-250T>G	NP_001304115.1:n.-250T>G