Canonical Allele Identifier: CA396466909

Gene: CDH1

Linked Data

• MyVariant Identifiers: chr16:g.68856023G>T (hg19) ; chr16:g.68822120G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822120G>T , CM000678.2:g.68822120G>T	GRCh38
NC_000016.9:g.68856023G>T , CM000678.1:g.68856023G>T	GRCh37
NC_000016.8:g.67413524G>T	NCBI36
NG_008021.1:g.89829G>T , LRG_301:g.89829G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1831G>T MANE Select	ENSP00000261769.4:p.Val611Phe
ENST00000261769.9:c.1831G>T	ENSP00000261769.4:p.Val611Phe
ENST00000422392.6:c.1648G>T	ENSP00000414946.2:p.Val550Phe
ENST00000562836.5:n.1902G>T
ENST00000566510.5:c.*497G>T	ENSP00000458139.1:n.*497G>T
ENST00000566612.5:c.*71G>T	ENSP00000454782.1:n.*71G>T
ENST00000611625.4:c.1894G>T	ENSP00000481063.1:p.Val632Phe
ENST00000612417.4:c.1830+1G>T	ENSP00000478360.1:n.1830+1G>T
ENST00000621016.4:c.1831G>T	ENSP00000480664.1:p.Val611Phe
NM_004360.3:c.1831G>T , LRG_301t1:c.1831G>T	NP_004351.1:p.Val611Phe
XM_011523488.1:c.1096G>T	XP_011521790.1:p.Val366Phe
XM_011523489.1:c.1096G>T	XP_011521791.1:p.Val366Phe
NM_001317184.1:c.1648G>T	NP_001304113.1:p.Val550Phe
NM_001317185.1:c.283G>T	NP_001304114.1:p.Val95Phe
NM_001317186.1:c.-135G>T	NP_001304115.1:n.-135G>T
NM_004360.4:c.1831G>T	NP_004351.1:p.Val611Phe
NM_004360.5:c.1831G>T MANE Select	NP_004351.1:p.Val611Phe
NM_001317184.2:c.1648G>T	NP_001304113.1:p.Val550Phe
NM_001317185.2:c.283G>T	NP_001304114.1:p.Val95Phe
NM_001317186.2:c.-135G>T	NP_001304115.1:n.-135G>T