Canonical Allele Identifier: CA157951
Community Standard Title: NM_004360.5(CDH1):c.1888C>G (p.Leu630Val)
Gene: CDH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822177C>G , CM000678.2:g.68822177C>G GRCh38
NC_000016.9:g.68856080C>G , CM000678.1:g.68856080C>G GRCh37
NC_000016.8:g.67413581C>G NCBI36
NG_008021.1:g.89886C>G , LRG_301:g.89886C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.1888C>G MANE Select NP_004351.1:p.Leu630Val
ENST00000261769.10:c.1888C>G MANE Select ENSP00000261769.4:p.Leu630Val
NM_001317184.1:c.1705C>G NP_001304113.1:p.Leu569Val
NM_001317184.2:c.1705C>G NP_001304113.1:p.Leu569Val
NM_001317185.1:c.340C>G NP_001304114.1:p.Leu114Val
NM_001317185.2:c.340C>G NP_001304114.1:p.Leu114Val
NM_001317186.1:c.-78C>G NP_001304115.1:n.-78C>G
NM_001317186.2:c.-78C>G NP_001304115.1:n.-78C>G
NM_004360.3:c.1888C>G , LRG_301t1:c.1888C>G NP_004351.1:p.Leu630Val
NM_004360.4:c.1888C>G NP_004351.1:p.Leu630Val
ENST00000261769.9:c.1888C>G ENSP00000261769.4:p.Leu630Val
ENST00000422392.6:c.1705C>G ENSP00000414946.2:p.Leu569Val
ENST00000562836.5:n.1959C>G
ENST00000566510.5:c.*554C>G ENSP00000458139.1:n.*554C>G
ENST00000566612.5:c.*128C>G ENSP00000454782.1:n.*128C>G
ENST00000611625.4:c.1951C>G ENSP00000481063.1:p.Leu651Val
ENST00000612417.4:c.1830+58C>G ENSP00000478360.1:n.1830+58C>G
ENST00000621016.4:c.1865+23C>G ENSP00000480664.1:n.1865+23C>G
XM_011523488.1:c.1153C>G XP_011521790.1:p.Leu385Val
XM_011523489.1:c.1153C>G XP_011521791.1:p.Leu385Val
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