Canonical Allele Identifier: CA396471353

Gene: CDH1

Linked Data

• dbSNP Id: rs2152142469
• MyVariant Identifiers: chr16:g.68863691T>A (hg19) ; chr16:g.68829788T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829788T>A , CM000678.2:g.68829788T>A	GRCh38
NC_000016.9:g.68863691T>A , CM000678.1:g.68863691T>A	GRCh37
NC_000016.8:g.67421192T>A	NCBI36
NG_008021.1:g.97497T>A , LRG_301:g.97497T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2430T>A MANE Select	ENSP00000261769.4:p.Phe810Leu
ENST00000261769.9:c.2430T>A	ENSP00000261769.4:p.Phe810Leu
ENST00000422392.6:c.2247T>A	ENSP00000414946.2:p.Phe749Leu
ENST00000562118.1:n.648T>A
ENST00000562836.5:n.2501T>A
ENST00000566510.5:c.*1096T>A	ENSP00000458139.1:n.*1096T>A
ENST00000566612.5:c.*670T>A	ENSP00000454782.1:n.*670T>A
ENST00000611625.4:c.2493T>A	ENSP00000481063.1:p.Phe831Leu
ENST00000612417.4:c.1853+3234T>A	ENSP00000478360.1:n.1853+3234T>A
ENST00000621016.4:c.1866-4415T>A	ENSP00000480664.1:n.1866-4415T>A
NM_004360.3:c.2430T>A , LRG_301t1:c.2430T>A	NP_004351.1:p.Phe810Leu
XM_011523488.1:c.1695T>A	XP_011521790.1:p.Phe565Leu
XM_011523489.1:c.1695T>A	XP_011521791.1:p.Phe565Leu
NM_001317184.1:c.2247T>A	NP_001304113.1:p.Phe749Leu
NM_001317185.1:c.882T>A	NP_001304114.1:p.Phe294Leu
NM_001317186.1:c.465T>A	NP_001304115.1:p.Phe155Leu
NM_004360.4:c.2430T>A	NP_004351.1:p.Phe810Leu
NM_004360.5:c.2430T>A MANE Select	NP_004351.1:p.Phe810Leu
NM_001317184.2:c.2247T>A	NP_001304113.1:p.Phe749Leu
NM_001317185.2:c.882T>A	NP_001304114.1:p.Phe294Leu
NM_001317186.2:c.465T>A	NP_001304115.1:p.Phe155Leu