Canonical Allele Identifier: CA396466220

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1778781
• ClinVar RCV Id: RCV002399066 ; RCV003512174
• MyVariant Identifiers: chr16:g.68855913T>C (hg19) ; chr16:g.68822010T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822010T>C , CM000678.2:g.68822010T>C	GRCh38
NC_000016.9:g.68855913T>C , CM000678.1:g.68855913T>C	GRCh37
NC_000016.8:g.67413414T>C	NCBI36
NG_008021.1:g.89719T>C , LRG_301:g.89719T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1721T>C MANE Select	ENSP00000261769.4:p.Val574Ala
ENST00000261769.9:c.1721T>C	ENSP00000261769.4:p.Val574Ala
ENST00000422392.6:c.1538T>C	ENSP00000414946.2:p.Val513Ala
ENST00000562836.5:n.1792T>C
ENST00000566510.5:c.*387T>C	ENSP00000458139.1:n.*387T>C
ENST00000566612.5:c.1575T>C	ENSP00000454782.1:p.Ser525=
ENST00000611625.4:c.1784T>C	ENSP00000481063.1:p.Val595Ala
ENST00000612417.4:c.1721T>C	ENSP00000478360.1:p.Val574Ala
ENST00000621016.4:c.1721T>C	ENSP00000480664.1:p.Val574Ala
NM_004360.3:c.1721T>C , LRG_301t1:c.1721T>C	NP_004351.1:p.Val574Ala
XM_011523488.1:c.986T>C	XP_011521790.1:p.Val329Ala
XM_011523489.1:c.986T>C	XP_011521791.1:p.Val329Ala
NM_001317184.1:c.1538T>C	NP_001304113.1:p.Val513Ala
NM_001317185.1:c.173T>C	NP_001304114.1:p.Val58Ala
NM_001317186.1:c.-245T>C	NP_001304115.1:n.-245T>C
NM_004360.4:c.1721T>C	NP_004351.1:p.Val574Ala
NM_004360.5:c.1721T>C MANE Select	NP_004351.1:p.Val574Ala
NM_001317184.2:c.1538T>C	NP_001304113.1:p.Val513Ala
NM_001317185.2:c.173T>C	NP_001304114.1:p.Val58Ala
NM_001317186.2:c.-245T>C	NP_001304115.1:n.-245T>C