Canonical Allele Identifier: CA396471100
Gene: CDH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.68863633T>G (hg19) chr16:g.68829730T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829730T>G , CM000678.2:g.68829730T>G GRCh38
NC_000016.9:g.68863633T>G , CM000678.1:g.68863633T>G GRCh37
NC_000016.8:g.67421134T>G NCBI36
NG_008021.1:g.97439T>G , LRG_301:g.97439T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2372T>G MANE Select ENSP00000261769.4:p.Leu791Arg
ENST00000261769.9:c.2372T>G ENSP00000261769.4:p.Leu791Arg
ENST00000422392.6:c.2189T>G ENSP00000414946.2:p.Leu730Arg
ENST00000562118.1:n.590T>G
ENST00000562836.5:n.2443T>G
ENST00000566510.5:c.*1038T>G ENSP00000458139.1:n.*1038T>G
ENST00000566612.5:c.*612T>G ENSP00000454782.1:n.*612T>G
ENST00000611625.4:c.2435T>G ENSP00000481063.1:p.Leu812Arg
ENST00000612417.4:c.1853+3176T>G ENSP00000478360.1:n.1853+3176T>G
ENST00000621016.4:c.1866-4473T>G ENSP00000480664.1:n.1866-4473T>G
NM_004360.3:c.2372T>G , LRG_301t1:c.2372T>G NP_004351.1:p.Leu791Arg
XM_011523488.1:c.1637T>G XP_011521790.1:p.Leu546Arg
XM_011523489.1:c.1637T>G XP_011521791.1:p.Leu546Arg
NM_001317184.1:c.2189T>G NP_001304113.1:p.Leu730Arg
NM_001317185.1:c.824T>G NP_001304114.1:p.Leu275Arg
NM_001317186.1:c.407T>G NP_001304115.1:p.Leu136Arg
NM_004360.4:c.2372T>G NP_004351.1:p.Leu791Arg
NM_004360.5:c.2372T>G MANE Select NP_004351.1:p.Leu791Arg
NM_001317184.2:c.2189T>G NP_001304113.1:p.Leu730Arg
NM_001317185.2:c.824T>G NP_001304114.1:p.Leu275Arg
NM_001317186.2:c.407T>G NP_001304115.1:p.Leu136Arg
Search 100 bp 5'
Search 100 bp 3'