Canonical Allele Identifier: CA283308282

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1418336
• ClinVar RCV Id: RCV001930914 ; RCV003303393
• dbSNP Id: rs931521632
• MyVariant Identifiers: chr16:g.68849580G>T (hg19) ; chr16:g.68815677G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815677G>T , CM000678.2:g.68815677G>T	GRCh38
NC_000016.9:g.68849580G>T , CM000678.1:g.68849580G>T	GRCh37
NC_000016.8:g.67407081G>T	NCBI36
NG_008021.1:g.83386G>T , LRG_301:g.83386G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1483G>T MANE Select	ENSP00000261769.4:p.Val495Leu
ENST00000261769.9:c.1483G>T	ENSP00000261769.4:p.Val495Leu
ENST00000422392.6:c.1300G>T	ENSP00000414946.2:p.Val434Leu
ENST00000562836.5:n.1554G>T
ENST00000566510.5:c.*149G>T	ENSP00000458139.1:n.*149G>T
ENST00000566612.5:c.1483G>T	ENSP00000454782.1:p.Val495Leu
ENST00000611625.4:c.1546G>T	ENSP00000481063.1:p.Val516Leu
ENST00000612417.4:c.1483G>T	ENSP00000478360.1:p.Val495Leu
ENST00000621016.4:c.1483G>T	ENSP00000480664.1:p.Val495Leu
NM_004360.3:c.1483G>T , LRG_301t1:c.1483G>T	NP_004351.1:p.Val495Leu
XM_011523488.1:c.748G>T	XP_011521790.1:p.Val250Leu
XM_011523489.1:c.748G>T	XP_011521791.1:p.Val250Leu
NM_001317184.1:c.1300G>T	NP_001304113.1:p.Val434Leu
NM_001317185.1:c.-66G>T	NP_001304114.1:n.-66G>T
NM_001317186.1:c.-337G>T	NP_001304115.1:n.-337G>T
NM_004360.4:c.1483G>T	NP_004351.1:p.Val495Leu
NM_004360.5:c.1483G>T MANE Select	NP_004351.1:p.Val495Leu
NM_001317184.2:c.1300G>T	NP_001304113.1:p.Val434Leu
NM_001317185.2:c.-66G>T	NP_001304114.1:n.-66G>T
NM_001317186.2:c.-337G>T	NP_001304115.1:n.-337G>T