Canonical Allele Identifier: CA701009
Community Standard Title: NM_006314.3(CNKSR1):c.2059C>T (p.His687Tyr)
Gene: CNKSR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26189465C>T , CM000663.2:g.26189465C>T GRCh38
NC_000001.10:g.26515956C>T , CM000663.1:g.26515956C>T GRCh37
NC_000001.9:g.26388543C>T NCBI36
NG_047117.1:g.16976C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006314.3:c.2059C>T MANE Select NP_006305.2:p.His687Tyr
ENST00000361530.11:c.2059C>T MANE Select ENSP00000354609.6:p.His687Tyr
NM_001297647.1:c.2080C>T NP_001284576.1:p.His694Tyr
NM_001297647.2:c.2080C>T NP_001284576.1:p.His694Tyr
NM_001297648.1:c.1285C>T NP_001284577.1:p.His429Tyr
NM_001297648.2:c.1285C>T NP_001284577.1:p.His429Tyr
NM_006314.2:c.2059C>T NP_006305.2:p.His687Tyr
ENST00000361530.10:c.2059C>T ENSP00000354609.6:p.His687Tyr
ENST00000374253.9:c.2080C>T ENSP00000363371.5:p.His694Tyr
ENST00000482227.5:c.*1364C>T ENSP00000435880.1:n.*1364C>T
ENST00000531191.5:c.1285C>T ENSP00000431817.1:p.His429Tyr
XM_006710282.1:c.1285C>T XP_006710345.1:p.His429Tyr
XM_011540484.1:c.1285C>T XP_011538786.1:p.His429Tyr
XM_011540485.1:c.1309C>T XP_011538787.1:p.His437Tyr