Canonical Allele Identifier: CA358731801
Gene: NEK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169508324A>C , CM000666.2:g.169508324A>C GRCh38
NC_000004.11:g.170429475A>C , CM000666.1:g.170429475A>C GRCh37
NC_000004.10:g.170666050A>C NCBI36
NG_027982.1:g.109304T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000685111.1:c.1589T>G ENSP00000508844.1:p.Leu530Arg
ENST00000685677.1:n.1055T>G
ENST00000686697.1:c.1547T>G ENSP00000508689.1:p.Leu516Arg
ENST00000687054.1:n.2251T>G
ENST00000687219.1:c.*1260T>G ENSP00000509736.1:n.*1260T>G
ENST00000687528.1:c.1625T>G ENSP00000510228.1:p.Leu542Arg
ENST00000687643.1:c.1700T>G ENSP00000509309.1:p.Leu567Arg
ENST00000688934.1:c.-125T>G ENSP00000510760.1:n.-125T>G
ENST00000689190.1:n.1643T>G
ENST00000692450.1:c.*1422T>G ENSP00000510283.1:n.*1422T>G
ENST00000693085.1:c.*1500T>G ENSP00000508746.1:n.*1500T>G
ENST00000693604.1:c.*691T>G ENSP00000509917.1:n.*691T>G
ENST00000507142.6:c.1757T>G MANE Select ENSP00000424757.2:p.Leu586Arg
ENST00000439128.6:c.1673T>G ENSP00000408020.2:p.Leu558Arg
ENST00000507142.5:c.1757T>G ENSP00000424757.1:p.Leu586Arg
ENST00000510533.5:c.1541T>G ENSP00000427653.1:p.Leu514Arg
ENST00000511633.5:c.1625T>G ENSP00000423332.1:p.Leu542Arg
ENST00000512193.5:c.1466T>G ENSP00000424938.1:p.Leu489Arg
NM_001199397.1:c.1757T>G NP_001186326.1:p.Leu586Arg
NM_001199398.1:c.1625T>G NP_001186327.1:p.Leu542Arg
NM_001199399.1:c.1466T>G NP_001186328.1:p.Leu489Arg
NM_001199400.1:c.1541T>G NP_001186329.1:p.Leu514Arg
NM_012224.2:c.1673T>G NP_036356.1:p.Leu558Arg
XM_006714228.1:c.1757T>G XP_006714291.1:p.Leu586Arg
XM_011532003.1:c.1673T>G XP_011530305.1:p.Leu558Arg
XM_011532004.1:c.1541T>G XP_011530306.1:p.Leu514Arg
XM_011532005.1:c.1757T>G XP_011530307.1:p.Leu586Arg
XM_011532005.2:c.1757T>G XP_011530307.1:p.Leu586Arg
XM_017008249.1:c.1136T>G XP_016863738.1:p.Leu379Arg
XM_017008251.1:c.1052T>G XP_016863740.1:p.Leu351Arg
XM_017008252.2:c.1052T>G XP_016863741.1:p.Leu351Arg
XM_017008253.1:c.605T>G XP_016863742.1:p.Leu202Arg
XM_017008254.1:c.401T>G XP_016863743.1:p.Leu134Arg
XM_024454065.1:c.1136T>G XP_024309833.1:p.Leu379Arg
XR_001741233.1:n.2337T>G
XR_001741234.2:n.2150T>G
NM_001199397.3:c.1757T>G MANE Select NP_001186326.1:p.Leu586Arg
NM_001199398.2:c.1625T>G NP_001186327.1:p.Leu542Arg
NM_001199399.2:c.1466T>G NP_001186328.1:p.Leu489Arg
NM_001199400.2:c.1541T>G NP_001186329.1:p.Leu514Arg
NM_001374418.1:c.1757T>G NP_001361347.1:p.Leu586Arg
NM_001374419.1:c.1673T>G NP_001361348.1:p.Leu558Arg
NM_001374420.1:c.1622T>G NP_001361349.1:p.Leu541Arg
NM_001374421.1:c.1547T>G NP_001361350.1:p.Leu516Arg
NM_012224.3:c.1673T>G NP_036356.1:p.Leu558Arg
NR_164630.1:n.2219T>G
NM_001199398.3:c.1625T>G NP_001186327.1:p.Leu542Arg
NM_001199399.3:c.1466T>G NP_001186328.1:p.Leu489Arg
NM_001199400.3:c.1541T>G NP_001186329.1:p.Leu514Arg
NM_012224.4:c.1673T>G NP_036356.1:p.Leu558Arg