Canonical Allele Identifier: CA396467768

Gene: CDH1

Linked Data

• MyVariant Identifiers: chr16:g.68857424G>C (hg19) ; chr16:g.68823521G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823521G>C , CM000678.2:g.68823521G>C	GRCh38
NC_000016.9:g.68857424G>C , CM000678.1:g.68857424G>C	GRCh37
NC_000016.8:g.67414925G>C	NCBI36
NG_008021.1:g.91230G>C , LRG_301:g.91230G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2059G>C MANE Select	ENSP00000261769.4:p.Asp687His
ENST00000261769.9:c.2059G>C	ENSP00000261769.4:p.Asp687His
ENST00000422392.6:c.1876G>C	ENSP00000414946.2:p.Asp626His
ENST00000562118.1:n.277G>C
ENST00000562836.5:n.2130G>C
ENST00000566510.5:c.*725G>C	ENSP00000458139.1:n.*725G>C
ENST00000566612.5:c.*299G>C	ENSP00000454782.1:n.*299G>C
ENST00000611625.4:c.2122G>C	ENSP00000481063.1:p.Asp708His
ENST00000612417.4:c.1830+1402G>C	ENSP00000478360.1:n.1830+1402G>C
ENST00000621016.4:c.1865+1367G>C	ENSP00000480664.1:n.1865+1367G>C
NM_004360.3:c.2059G>C , LRG_301t1:c.2059G>C	NP_004351.1:p.Asp687His
XM_011523488.1:c.1324G>C	XP_011521790.1:p.Asp442His
XM_011523489.1:c.1324G>C	XP_011521791.1:p.Asp442His
NM_001317184.1:c.1876G>C	NP_001304113.1:p.Asp626His
NM_001317185.1:c.511G>C	NP_001304114.1:p.Asp171His
NM_001317186.1:c.94G>C	NP_001304115.1:p.Asp32His
NM_004360.4:c.2059G>C	NP_004351.1:p.Asp687His
NM_004360.5:c.2059G>C MANE Select	NP_004351.1:p.Asp687His
NM_001317184.2:c.1876G>C	NP_001304113.1:p.Asp626His
NM_001317185.2:c.511G>C	NP_001304114.1:p.Asp171His
NM_001317186.2:c.94G>C	NP_001304115.1:p.Asp32His