Canonical Allele Identifier: CA396472042
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs2152143876
MyVariant Identifiers: chr16:g.68867223G>T (hg19) chr16:g.68833320G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833320G>T , CM000678.2:g.68833320G>T GRCh38
NC_000016.9:g.68867223G>T , CM000678.1:g.68867223G>T GRCh37
NC_000016.8:g.67424724G>T NCBI36
NG_008021.1:g.101029G>T , LRG_301:g.101029G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2470G>T MANE Select ENSP00000261769.4:p.Ala824Ser
ENST00000261769.9:c.2470G>T ENSP00000261769.4:p.Ala824Ser
ENST00000422392.6:c.2287G>T ENSP00000414946.2:p.Ala763Ser
ENST00000562118.1:n.688G>T
ENST00000562836.5:n.2541G>T
ENST00000566510.5:c.*1136G>T ENSP00000458139.1:n.*1136G>T
ENST00000566612.5:c.*710G>T ENSP00000454782.1:n.*710G>T
ENST00000611625.4:c.2533G>T ENSP00000481063.1:p.Ala845Ser
ENST00000612417.4:c.1854-871G>T ENSP00000478360.1:n.1854-871G>T
ENST00000621016.4:c.1866-883G>T ENSP00000480664.1:n.1866-883G>T
NM_004360.3:c.2470G>T , LRG_301t1:c.2470G>T NP_004351.1:p.Ala824Ser
XM_011523488.1:c.1735G>T XP_011521790.1:p.Ala579Ser
XM_011523489.1:c.1735G>T XP_011521791.1:p.Ala579Ser
NM_001317184.1:c.2287G>T NP_001304113.1:p.Ala763Ser
NM_001317185.1:c.922G>T NP_001304114.1:p.Ala308Ser
NM_001317186.1:c.505G>T NP_001304115.1:p.Ala169Ser
NM_004360.4:c.2470G>T NP_004351.1:p.Ala824Ser
NM_004360.5:c.2470G>T MANE Select NP_004351.1:p.Ala824Ser
NM_001317184.2:c.2287G>T NP_001304113.1:p.Ala763Ser
NM_001317185.2:c.922G>T NP_001304114.1:p.Ala308Ser
NM_001317186.2:c.505G>T NP_001304115.1:p.Ala169Ser
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