Canonical Allele Identifier: CA396467166

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2037511
• ClinVar RCV Id: RCV002885820
• dbSNP Id: rs1555516892
• MyVariant Identifiers: chr16:g.68856087A>T (hg19) ; chr16:g.68822184A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822184A>T , CM000678.2:g.68822184A>T	GRCh38
NC_000016.9:g.68856087A>T , CM000678.1:g.68856087A>T	GRCh37
NC_000016.8:g.67413588A>T	NCBI36
NG_008021.1:g.89893A>T , LRG_301:g.89893A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1895A>T MANE Select	ENSP00000261769.4:p.His632Leu
ENST00000261769.9:c.1895A>T	ENSP00000261769.4:p.His632Leu
ENST00000422392.6:c.1712A>T	ENSP00000414946.2:p.His571Leu
ENST00000562836.5:n.1966A>T
ENST00000566510.5:c.*561A>T	ENSP00000458139.1:n.*561A>T
ENST00000566612.5:c.*135A>T	ENSP00000454782.1:n.*135A>T
ENST00000611625.4:c.1958A>T	ENSP00000481063.1:p.His653Leu
ENST00000612417.4:c.1830+65A>T	ENSP00000478360.1:n.1830+65A>T
ENST00000621016.4:c.1865+30A>T	ENSP00000480664.1:n.1865+30A>T
NM_004360.3:c.1895A>T , LRG_301t1:c.1895A>T	NP_004351.1:p.His632Leu
XM_011523488.1:c.1160A>T	XP_011521790.1:p.His387Leu
XM_011523489.1:c.1160A>T	XP_011521791.1:p.His387Leu
NM_001317184.1:c.1712A>T	NP_001304113.1:p.His571Leu
NM_001317185.1:c.347A>T	NP_001304114.1:p.His116Leu
NM_001317186.1:c.-71A>T	NP_001304115.1:n.-71A>T
NM_004360.4:c.1895A>T	NP_004351.1:p.His632Leu
NM_004360.5:c.1895A>T MANE Select	NP_004351.1:p.His632Leu
NM_001317184.2:c.1712A>T	NP_001304113.1:p.His571Leu
NM_001317185.2:c.347A>T	NP_001304114.1:p.His116Leu
NM_001317186.2:c.-71A>T	NP_001304115.1:n.-71A>T