Canonical Allele Identifier: CA396471242

Gene: CDH1

Linked Data

• MyVariant Identifiers: chr16:g.68863669A>C (hg19) ; chr16:g.68829766A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829766A>C , CM000678.2:g.68829766A>C	GRCh38
NC_000016.9:g.68863669A>C , CM000678.1:g.68863669A>C	GRCh37
NC_000016.8:g.67421170A>C	NCBI36
NG_008021.1:g.97475A>C , LRG_301:g.97475A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2408A>C MANE Select	ENSP00000261769.4:p.Asn803Thr
ENST00000261769.9:c.2408A>C	ENSP00000261769.4:p.Asn803Thr
ENST00000422392.6:c.2225A>C	ENSP00000414946.2:p.Asn742Thr
ENST00000562118.1:n.626A>C
ENST00000562836.5:n.2479A>C
ENST00000566510.5:c.*1074A>C	ENSP00000458139.1:n.*1074A>C
ENST00000566612.5:c.*648A>C	ENSP00000454782.1:n.*648A>C
ENST00000611625.4:c.2471A>C	ENSP00000481063.1:p.Asn824Thr
ENST00000612417.4:c.1853+3212A>C	ENSP00000478360.1:n.1853+3212A>C
ENST00000621016.4:c.1866-4437A>C	ENSP00000480664.1:n.1866-4437A>C
NM_004360.3:c.2408A>C , LRG_301t1:c.2408A>C	NP_004351.1:p.Asn803Thr
XM_011523488.1:c.1673A>C	XP_011521790.1:p.Asn558Thr
XM_011523489.1:c.1673A>C	XP_011521791.1:p.Asn558Thr
NM_001317184.1:c.2225A>C	NP_001304113.1:p.Asn742Thr
NM_001317185.1:c.860A>C	NP_001304114.1:p.Asn287Thr
NM_001317186.1:c.443A>C	NP_001304115.1:p.Asn148Thr
NM_004360.4:c.2408A>C	NP_004351.1:p.Asn803Thr
NM_004360.5:c.2408A>C MANE Select	NP_004351.1:p.Asn803Thr
NM_001317184.2:c.2225A>C	NP_001304113.1:p.Asn742Thr
NM_001317185.2:c.860A>C	NP_001304114.1:p.Asn287Thr
NM_001317186.2:c.443A>C	NP_001304115.1:p.Asn148Thr