Canonical Allele Identifier: CA396458359

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2709510
• ClinVar RCV Id: RCV003513027
• dbSNP Id: rs2152130987
• MyVariant Identifiers: chr16:g.68844101T>C (hg19) ; chr16:g.68810198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68810198T>C , CM000678.2:g.68810198T>C	GRCh38
NC_000016.9:g.68844101T>C , CM000678.1:g.68844101T>C	GRCh37
NC_000016.8:g.67401602T>C	NCBI36
NG_008021.1:g.77907T>C , LRG_301:g.77907T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.689T>C MANE Select	ENSP00000261769.4:p.Leu230Pro
ENST00000261769.9:c.689T>C	ENSP00000261769.4:p.Leu230Pro
ENST00000422392.6:c.689T>C	ENSP00000414946.2:p.Leu230Pro
ENST00000561751.1:c.454+1350T>C
ENST00000562836.5:n.760T>C
ENST00000566510.5:c.533T>C	ENSP00000458139.1:p.Leu178Pro
ENST00000566612.5:c.689T>C	ENSP00000454782.1:p.Leu230Pro
ENST00000611625.4:c.689T>C	ENSP00000481063.1:p.Leu230Pro
ENST00000612417.4:c.689T>C	ENSP00000478360.1:p.Leu230Pro
ENST00000621016.4:c.689T>C	ENSP00000480664.1:p.Leu230Pro
NM_004360.3:c.689T>C , LRG_301t1:c.689T>C	NP_004351.1:p.Leu230Pro
XM_011523488.1:c.-47T>C	XP_011521790.1:n.-47T>C
XM_011523489.1:c.-47T>C	XP_011521791.1:n.-47T>C
NM_001317184.1:c.689T>C	NP_001304113.1:p.Leu230Pro
NM_001317185.1:c.-927T>C	NP_001304114.1:n.-927T>C
NM_001317186.1:c.-1131T>C	NP_001304115.1:n.-1131T>C
NM_004360.4:c.689T>C	NP_004351.1:p.Leu230Pro
NM_004360.5:c.689T>C MANE Select	NP_004351.1:p.Leu230Pro
NM_001317184.2:c.689T>C	NP_001304113.1:p.Leu230Pro
NM_001317185.2:c.-927T>C	NP_001304114.1:n.-927T>C
NM_001317186.2:c.-1131T>C	NP_001304115.1:n.-1131T>C