Canonical Allele Identifier: CA700808

Gene: CNKSR1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26188241C>T , CM000663.2:g.26188241C>T	GRCh38
NC_000001.10:g.26514732C>T , CM000663.1:g.26514732C>T	GRCh37
NC_000001.9:g.26387319C>T	NCBI36
NG_047117.1:g.15752C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006314.3:c.1462C>T MANE Select	NP_006305.2:p.Arg488Cys
ENST00000361530.11:c.1462C>T MANE Select	ENSP00000354609.6:p.Arg488Cys
NM_001297647.1:c.1483C>T	NP_001284576.1:p.Arg495Cys
NM_001297647.2:c.1483C>T	NP_001284576.1:p.Arg495Cys
NM_001297648.1:c.688C>T	NP_001284577.1:p.Arg230Cys
NM_001297648.2:c.688C>T	NP_001284577.1:p.Arg230Cys
NM_006314.2:c.1462C>T	NP_006305.2:p.Arg488Cys
ENST00000361530.10:c.1462C>T	ENSP00000354609.6:p.Arg488Cys
ENST00000374253.9:c.1483C>T	ENSP00000363371.5:p.Arg495Cys
ENST00000480617.1:n.407C>T
ENST00000482227.5:c.*767C>T	ENSP00000435880.1:n.*767C>T
ENST00000484874.2:n.198C>T
ENST00000528281.5:c.760C>T
ENST00000531191.5:c.688C>T	ENSP00000431817.1:p.Arg230Cys
XM_006710282.1:c.688C>T	XP_006710345.1:p.Arg230Cys
XM_011540484.1:c.688C>T	XP_011538786.1:p.Arg230Cys
XM_011540485.1:c.712C>T	XP_011538787.1:p.Arg238Cys