Canonical Allele Identifier: CA396470908

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1049786
• ClinVar RCV Id: RCV001356335
• dbSNP Id: rs2152142271
• MyVariant Identifiers: chr16:g.68863588T>C (hg19) ; chr16:g.68829685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829685T>C , CM000678.2:g.68829685T>C	GRCh38
NC_000016.9:g.68863588T>C , CM000678.1:g.68863588T>C	GRCh37
NC_000016.8:g.67421089T>C	NCBI36
NG_008021.1:g.97394T>C , LRG_301:g.97394T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2327T>C MANE Select	ENSP00000261769.4:p.Leu776Pro
ENST00000261769.9:c.2327T>C	ENSP00000261769.4:p.Leu776Pro
ENST00000422392.6:c.2144T>C	ENSP00000414946.2:p.Leu715Pro
ENST00000562118.1:n.545T>C
ENST00000562836.5:n.2398T>C
ENST00000566510.5:c.*993T>C	ENSP00000458139.1:n.*993T>C
ENST00000566612.5:c.*567T>C	ENSP00000454782.1:n.*567T>C
ENST00000611625.4:c.2390T>C	ENSP00000481063.1:p.Leu797Pro
ENST00000612417.4:c.1853+3131T>C	ENSP00000478360.1:n.1853+3131T>C
ENST00000621016.4:c.1866-4518T>C	ENSP00000480664.1:n.1866-4518T>C
NM_004360.3:c.2327T>C , LRG_301t1:c.2327T>C	NP_004351.1:p.Leu776Pro
XM_011523488.1:c.1592T>C	XP_011521790.1:p.Leu531Pro
XM_011523489.1:c.1592T>C	XP_011521791.1:p.Leu531Pro
NM_001317184.1:c.2144T>C	NP_001304113.1:p.Leu715Pro
NM_001317185.1:c.779T>C	NP_001304114.1:p.Leu260Pro
NM_001317186.1:c.362T>C	NP_001304115.1:p.Leu121Pro
NM_004360.4:c.2327T>C	NP_004351.1:p.Leu776Pro
NM_004360.5:c.2327T>C MANE Select	NP_004351.1:p.Leu776Pro
NM_001317184.2:c.2144T>C	NP_001304113.1:p.Leu715Pro
NM_001317185.2:c.779T>C	NP_001304114.1:p.Leu260Pro
NM_001317186.2:c.362T>C	NP_001304115.1:p.Leu121Pro