Canonical Allele Identifier: CA496153951

Gene: CDH1

Linked Data

• ClinVar Variation Id: 819051
• ClinVar RCV Id: RCV001011269
• dbSNP Id: rs1238176229
• MyVariant Identifiers: chr16:g.68849480T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815577T>G , CM000678.2:g.68815577T>G	GRCh38
NC_000016.9:g.68849480T>G , CM000678.1:g.68849480T>G	GRCh37
NC_000016.8:g.67406981T>G	NCBI36
NG_008021.1:g.83286T>G , LRG_301:g.83286T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1383T>G MANE Select	ENSP00000261769.4:p.Pro461=
ENST00000261769.9:c.1383T>G	ENSP00000261769.4:p.Pro461=
ENST00000422392.6:c.1200T>G	ENSP00000414946.2:p.Pro400=
ENST00000562836.5:n.1454T>G
ENST00000566510.5:c.*49T>G	ENSP00000458139.1:n.*49T>G
ENST00000566612.5:c.1383T>G	ENSP00000454782.1:p.Pro461=
ENST00000611625.4:c.1446T>G	ENSP00000481063.1:p.Pro482=
ENST00000612417.4:c.1383T>G	ENSP00000478360.1:p.Pro461=
ENST00000621016.4:c.1383T>G	ENSP00000480664.1:p.Pro461=
NM_004360.3:c.1383T>G , LRG_301t1:c.1383T>G	NP_004351.1:p.Pro461=
XM_011523488.1:c.648T>G	XP_011521790.1:p.Pro216=
XM_011523489.1:c.648T>G	XP_011521791.1:p.Pro216=
NM_001317184.1:c.1200T>G	NP_001304113.1:p.Pro400=
NM_001317185.1:c.-166T>G	NP_001304114.1:n.-166T>G
NM_001317186.1:c.-437T>G	NP_001304115.1:n.-437T>G
NM_004360.4:c.1383T>G	NP_004351.1:p.Pro461=
NM_004360.5:c.1383T>G MANE Select	NP_004351.1:p.Pro461=
NM_001317184.2:c.1200T>G	NP_001304113.1:p.Pro400=
NM_001317185.2:c.-166T>G	NP_001304114.1:n.-166T>G
NM_001317186.2:c.-437T>G	NP_001304115.1:n.-437T>G