Canonical Allele Identifier: CA396470756

Gene: CDH1

Linked Data

• MyVariant Identifiers: chr16:g.68863562T>G (hg19) ; chr16:g.68829659T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829659T>G , CM000678.2:g.68829659T>G	GRCh38
NC_000016.9:g.68863562T>G , CM000678.1:g.68863562T>G	GRCh37
NC_000016.8:g.67421063T>G	NCBI36
NG_008021.1:g.97368T>G , LRG_301:g.97368T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2301T>G MANE Select	ENSP00000261769.4:p.Phe767Leu
ENST00000261769.9:c.2301T>G	ENSP00000261769.4:p.Phe767Leu
ENST00000422392.6:c.2118T>G	ENSP00000414946.2:p.Phe706Leu
ENST00000562118.1:n.519T>G
ENST00000562836.5:n.2372T>G
ENST00000566510.5:c.*967T>G	ENSP00000458139.1:n.*967T>G
ENST00000566612.5:c.*541T>G	ENSP00000454782.1:n.*541T>G
ENST00000611625.4:c.2364T>G	ENSP00000481063.1:p.Phe788Leu
ENST00000612417.4:c.1853+3105T>G	ENSP00000478360.1:n.1853+3105T>G
ENST00000621016.4:c.1866-4544T>G	ENSP00000480664.1:n.1866-4544T>G
NM_004360.3:c.2301T>G , LRG_301t1:c.2301T>G	NP_004351.1:p.Phe767Leu
XM_011523488.1:c.1566T>G	XP_011521790.1:p.Phe522Leu
XM_011523489.1:c.1566T>G	XP_011521791.1:p.Phe522Leu
NM_001317184.1:c.2118T>G	NP_001304113.1:p.Phe706Leu
NM_001317185.1:c.753T>G	NP_001304114.1:p.Phe251Leu
NM_001317186.1:c.336T>G	NP_001304115.1:p.Phe112Leu
NM_004360.4:c.2301T>G	NP_004351.1:p.Phe767Leu
NM_004360.5:c.2301T>G MANE Select	NP_004351.1:p.Phe767Leu
NM_001317184.2:c.2118T>G	NP_001304113.1:p.Phe706Leu
NM_001317185.2:c.753T>G	NP_001304114.1:p.Phe251Leu
NM_001317186.2:c.336T>G	NP_001304115.1:p.Phe112Leu