Canonical Allele Identifier: CA396467599

Gene: CDH1

Linked Data

• ClinVar Variation Id: 862268
• ClinVar RCV Id: RCV001068957
• dbSNP Id: rs1596965647
• MyVariant Identifiers: chr16:g.68857349G>T (hg19) ; chr16:g.68823446G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823446G>T , CM000678.2:g.68823446G>T	GRCh38
NC_000016.9:g.68857349G>T , CM000678.1:g.68857349G>T	GRCh37
NC_000016.8:g.67414850G>T	NCBI36
NG_008021.1:g.91155G>T , LRG_301:g.91155G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1984G>T MANE Select	ENSP00000261769.4:p.Asp662Tyr
ENST00000261769.9:c.1984G>T	ENSP00000261769.4:p.Asp662Tyr
ENST00000422392.6:c.1801G>T	ENSP00000414946.2:p.Asp601Tyr
ENST00000562118.1:n.202G>T
ENST00000562836.5:n.2055G>T
ENST00000566510.5:c.*650G>T	ENSP00000458139.1:n.*650G>T
ENST00000566612.5:c.*224G>T	ENSP00000454782.1:n.*224G>T
ENST00000611625.4:c.2047G>T	ENSP00000481063.1:p.Asp683Tyr
ENST00000612417.4:c.1830+1327G>T	ENSP00000478360.1:n.1830+1327G>T
ENST00000621016.4:c.1865+1292G>T	ENSP00000480664.1:n.1865+1292G>T
NM_004360.3:c.1984G>T , LRG_301t1:c.1984G>T	NP_004351.1:p.Asp662Tyr
XM_011523488.1:c.1249G>T	XP_011521790.1:p.Asp417Tyr
XM_011523489.1:c.1249G>T	XP_011521791.1:p.Asp417Tyr
NM_001317184.1:c.1801G>T	NP_001304113.1:p.Asp601Tyr
NM_001317185.1:c.436G>T	NP_001304114.1:p.Asp146Tyr
NM_001317186.1:c.19G>T	NP_001304115.1:p.Asp7Tyr
NM_004360.4:c.1984G>T	NP_004351.1:p.Asp662Tyr
NM_004360.5:c.1984G>T MANE Select	NP_004351.1:p.Asp662Tyr
NM_001317184.2:c.1801G>T	NP_001304113.1:p.Asp601Tyr
NM_001317185.2:c.436G>T	NP_001304114.1:p.Asp146Tyr
NM_001317186.2:c.19G>T	NP_001304115.1:p.Asp7Tyr