Canonical Allele Identifier: CA396472125

Gene: CDH1

Linked Data

• MyVariant Identifiers: chr16:g.68867242T>C (hg19) ; chr16:g.68833339T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833339T>C , CM000678.2:g.68833339T>C	GRCh38
NC_000016.9:g.68867242T>C , CM000678.1:g.68867242T>C	GRCh37
NC_000016.8:g.67424743T>C	NCBI36
NG_008021.1:g.101048T>C , LRG_301:g.101048T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2489T>C MANE Select	ENSP00000261769.4:p.Leu830Pro
ENST00000261769.9:c.2489T>C	ENSP00000261769.4:p.Leu830Pro
ENST00000422392.6:c.2306T>C	ENSP00000414946.2:p.Leu769Pro
ENST00000562118.1:n.707T>C
ENST00000562836.5:n.2560T>C
ENST00000566510.5:c.*1155T>C	ENSP00000458139.1:n.*1155T>C
ENST00000566612.5:c.*729T>C	ENSP00000454782.1:n.*729T>C
ENST00000611625.4:c.2552T>C	ENSP00000481063.1:p.Leu851Pro
ENST00000612417.4:c.1854-852T>C	ENSP00000478360.1:n.1854-852T>C
ENST00000621016.4:c.1866-864T>C	ENSP00000480664.1:n.1866-864T>C
NM_004360.3:c.2489T>C , LRG_301t1:c.2489T>C	NP_004351.1:p.Leu830Pro
XM_011523488.1:c.1754T>C	XP_011521790.1:p.Leu585Pro
XM_011523489.1:c.1754T>C	XP_011521791.1:p.Leu585Pro
NM_001317184.1:c.2306T>C	NP_001304113.1:p.Leu769Pro
NM_001317185.1:c.941T>C	NP_001304114.1:p.Leu314Pro
NM_001317186.1:c.524T>C	NP_001304115.1:p.Leu175Pro
NM_004360.4:c.2489T>C	NP_004351.1:p.Leu830Pro
NM_004360.5:c.2489T>C MANE Select	NP_004351.1:p.Leu830Pro
NM_001317184.2:c.2306T>C	NP_001304113.1:p.Leu769Pro
NM_001317185.2:c.941T>C	NP_001304114.1:p.Leu314Pro
NM_001317186.2:c.524T>C	NP_001304115.1:p.Leu175Pro