Canonical Allele Identifier: CA396467515

Gene: CDH1

Linked Data

• dbSNP Id: rs2152139241
• MyVariant Identifiers: chr16:g.68857310T>C (hg19) ; chr16:g.68823407T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823407T>C , CM000678.2:g.68823407T>C	GRCh38
NC_000016.9:g.68857310T>C , CM000678.1:g.68857310T>C	GRCh37
NC_000016.8:g.67414811T>C	NCBI36
NG_008021.1:g.91116T>C , LRG_301:g.91116T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1945T>C MANE Select	ENSP00000261769.4:p.Ser649Pro
ENST00000261769.9:c.1945T>C	ENSP00000261769.4:p.Ser649Pro
ENST00000422392.6:c.1762T>C	ENSP00000414946.2:p.Ser588Pro
ENST00000562118.1:n.163T>C
ENST00000562836.5:n.2016T>C
ENST00000566510.5:c.*611T>C	ENSP00000458139.1:n.*611T>C
ENST00000566612.5:c.*185T>C	ENSP00000454782.1:n.*185T>C
ENST00000611625.4:c.2008T>C	ENSP00000481063.1:p.Ser670Pro
ENST00000612417.4:c.1830+1288T>C	ENSP00000478360.1:n.1830+1288T>C
ENST00000621016.4:c.1865+1253T>C	ENSP00000480664.1:n.1865+1253T>C
NM_004360.3:c.1945T>C , LRG_301t1:c.1945T>C	NP_004351.1:p.Ser649Pro
XM_011523488.1:c.1210T>C	XP_011521790.1:p.Ser404Pro
XM_011523489.1:c.1210T>C	XP_011521791.1:p.Ser404Pro
NM_001317184.1:c.1762T>C	NP_001304113.1:p.Ser588Pro
NM_001317185.1:c.397T>C	NP_001304114.1:p.Ser133Pro
NM_001317186.1:c.-21T>C	NP_001304115.1:n.-21T>C
NM_004360.4:c.1945T>C	NP_004351.1:p.Ser649Pro
NM_004360.5:c.1945T>C MANE Select	NP_004351.1:p.Ser649Pro
NM_001317184.2:c.1762T>C	NP_001304113.1:p.Ser588Pro
NM_001317185.2:c.397T>C	NP_001304114.1:p.Ser133Pro
NM_001317186.2:c.-21T>C	NP_001304115.1:n.-21T>C