Canonical Allele Identifier: CA396467526

Gene: CDH1

Linked Data

• MyVariant Identifiers: chr16:g.68857316A>C (hg19) ; chr16:g.68823413A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823413A>C , CM000678.2:g.68823413A>C	GRCh38
NC_000016.9:g.68857316A>C , CM000678.1:g.68857316A>C	GRCh37
NC_000016.8:g.67414817A>C	NCBI36
NG_008021.1:g.91122A>C , LRG_301:g.91122A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1951A>C MANE Select	ENSP00000261769.4:p.Ile651Leu
ENST00000261769.9:c.1951A>C	ENSP00000261769.4:p.Ile651Leu
ENST00000422392.6:c.1768A>C	ENSP00000414946.2:p.Ile590Leu
ENST00000562118.1:n.169A>C
ENST00000562836.5:n.2022A>C
ENST00000566510.5:c.*617A>C	ENSP00000458139.1:n.*617A>C
ENST00000566612.5:c.*191A>C	ENSP00000454782.1:n.*191A>C
ENST00000611625.4:c.2014A>C	ENSP00000481063.1:p.Ile672Leu
ENST00000612417.4:c.1830+1294A>C	ENSP00000478360.1:n.1830+1294A>C
ENST00000621016.4:c.1865+1259A>C	ENSP00000480664.1:n.1865+1259A>C
NM_004360.3:c.1951A>C , LRG_301t1:c.1951A>C	NP_004351.1:p.Ile651Leu
XM_011523488.1:c.1216A>C	XP_011521790.1:p.Ile406Leu
XM_011523489.1:c.1216A>C	XP_011521791.1:p.Ile406Leu
NM_001317184.1:c.1768A>C	NP_001304113.1:p.Ile590Leu
NM_001317185.1:c.403A>C	NP_001304114.1:p.Ile135Leu
NM_001317186.1:c.-15A>C	NP_001304115.1:n.-15A>C
NM_004360.4:c.1951A>C	NP_004351.1:p.Ile651Leu
NM_004360.5:c.1951A>C MANE Select	NP_004351.1:p.Ile651Leu
NM_001317184.2:c.1768A>C	NP_001304113.1:p.Ile590Leu
NM_001317185.2:c.403A>C	NP_001304114.1:p.Ile135Leu
NM_001317186.2:c.-15A>C	NP_001304115.1:n.-15A>C