Canonical Allele Identifier: CA396471187
Gene: CDH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.68863654T>G (hg19) chr16:g.68829751T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829751T>G , CM000678.2:g.68829751T>G GRCh38
NC_000016.9:g.68863654T>G , CM000678.1:g.68863654T>G GRCh37
NC_000016.8:g.67421155T>G NCBI36
NG_008021.1:g.97460T>G , LRG_301:g.97460T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2393T>G MANE Select ENSP00000261769.4:p.Leu798Arg
ENST00000261769.9:c.2393T>G ENSP00000261769.4:p.Leu798Arg
ENST00000422392.6:c.2210T>G ENSP00000414946.2:p.Leu737Arg
ENST00000562118.1:n.611T>G
ENST00000562836.5:n.2464T>G
ENST00000566510.5:c.*1059T>G ENSP00000458139.1:n.*1059T>G
ENST00000566612.5:c.*633T>G ENSP00000454782.1:n.*633T>G
ENST00000611625.4:c.2456T>G ENSP00000481063.1:p.Leu819Arg
ENST00000612417.4:c.1853+3197T>G ENSP00000478360.1:n.1853+3197T>G
ENST00000621016.4:c.1866-4452T>G ENSP00000480664.1:n.1866-4452T>G
NM_004360.3:c.2393T>G , LRG_301t1:c.2393T>G NP_004351.1:p.Leu798Arg
XM_011523488.1:c.1658T>G XP_011521790.1:p.Leu553Arg
XM_011523489.1:c.1658T>G XP_011521791.1:p.Leu553Arg
NM_001317184.1:c.2210T>G NP_001304113.1:p.Leu737Arg
NM_001317185.1:c.845T>G NP_001304114.1:p.Leu282Arg
NM_001317186.1:c.428T>G NP_001304115.1:p.Leu143Arg
NM_004360.4:c.2393T>G NP_004351.1:p.Leu798Arg
NM_004360.5:c.2393T>G MANE Select NP_004351.1:p.Leu798Arg
NM_001317184.2:c.2210T>G NP_001304113.1:p.Leu737Arg
NM_001317185.2:c.845T>G NP_001304114.1:p.Leu282Arg
NM_001317186.2:c.428T>G NP_001304115.1:p.Leu143Arg
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