Canonical Allele Identifier: CA396465346

Gene: CDH1

Linked Data

• gnomAD v4: 16-68819392-A-G
• MyVariant Identifiers: chr16:g.68853295A>G (hg19) ; chr16:g.68819392A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819392A>G , CM000678.2:g.68819392A>G	GRCh38
NC_000016.9:g.68853295A>G , CM000678.1:g.68853295A>G	GRCh37
NC_000016.8:g.67410796A>G	NCBI36
NG_008021.1:g.87101A>G , LRG_301:g.87101A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1678A>G MANE Select	ENSP00000261769.4:p.Thr560Ala
ENST00000261769.9:c.1678A>G	ENSP00000261769.4:p.Thr560Ala
ENST00000422392.6:c.1495A>G	ENSP00000414946.2:p.Thr499Ala
ENST00000562836.5:n.1749A>G
ENST00000566510.5:c.*344A>G	ENSP00000458139.1:n.*344A>G
ENST00000566612.5:c.1566-2609A>G	ENSP00000454782.1:n.1566-2609A>G
ENST00000611625.4:c.1741A>G	ENSP00000481063.1:p.Thr581Ala
ENST00000612417.4:c.1678A>G	ENSP00000478360.1:p.Thr560Ala
ENST00000621016.4:c.1678A>G	ENSP00000480664.1:p.Thr560Ala
NM_004360.3:c.1678A>G , LRG_301t1:c.1678A>G	NP_004351.1:p.Thr560Ala
XM_011523488.1:c.943A>G	XP_011521790.1:p.Thr315Ala
XM_011523489.1:c.943A>G	XP_011521791.1:p.Thr315Ala
NM_001317184.1:c.1495A>G	NP_001304113.1:p.Thr499Ala
NM_001317185.1:c.130A>G	NP_001304114.1:p.Thr44Ala
NM_001317186.1:c.-254-2609A>G	NP_001304115.1:n.-254-2609A>G
NM_004360.4:c.1678A>G	NP_004351.1:p.Thr560Ala
NM_004360.5:c.1678A>G MANE Select	NP_004351.1:p.Thr560Ala
NM_001317184.2:c.1495A>G	NP_001304113.1:p.Thr499Ala
NM_001317185.2:c.130A>G	NP_001304114.1:p.Thr44Ala
NM_001317186.2:c.-254-2609A>G	NP_001304115.1:n.-254-2609A>G