Canonical Allele Identifier: CA442293162
Gene: NEK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.170429470T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169508319T>G , CM000666.2:g.169508319T>G GRCh38
NC_000004.11:g.170429470T>G , CM000666.1:g.170429470T>G GRCh37
NC_000004.10:g.170666045T>G NCBI36
NG_027982.1:g.109309A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000685111.1:c.1594A>C ENSP00000508844.1:p.Arg532=
ENST00000685677.1:n.1060A>C
ENST00000686697.1:c.1552A>C ENSP00000508689.1:p.Arg518=
ENST00000687054.1:n.2256A>C
ENST00000687219.1:c.*1265A>C ENSP00000509736.1:n.*1265A>C
ENST00000687528.1:c.1630A>C ENSP00000510228.1:p.Arg544=
ENST00000687643.1:c.1705A>C ENSP00000509309.1:p.Arg569=
ENST00000688934.1:c.-120A>C ENSP00000510760.1:n.-120A>C
ENST00000689190.1:n.1648A>C
ENST00000692450.1:c.*1427A>C ENSP00000510283.1:n.*1427A>C
ENST00000693085.1:c.*1505A>C ENSP00000508746.1:n.*1505A>C
ENST00000693604.1:c.*696A>C ENSP00000509917.1:n.*696A>C
ENST00000507142.6:c.1762A>C MANE Select ENSP00000424757.2:p.Arg588=
ENST00000439128.6:c.1678A>C ENSP00000408020.2:p.Arg560=
ENST00000507142.5:c.1762A>C ENSP00000424757.1:p.Arg588=
ENST00000510533.5:c.1546A>C ENSP00000427653.1:p.Arg516=
ENST00000511633.5:c.1630A>C ENSP00000423332.1:p.Arg544=
ENST00000512193.5:c.1471A>C ENSP00000424938.1:p.Arg491=
NM_001199397.1:c.1762A>C NP_001186326.1:p.Arg588=
NM_001199398.1:c.1630A>C NP_001186327.1:p.Arg544=
NM_001199399.1:c.1471A>C NP_001186328.1:p.Arg491=
NM_001199400.1:c.1546A>C NP_001186329.1:p.Arg516=
NM_012224.2:c.1678A>C NP_036356.1:p.Arg560=
XM_006714228.1:c.1762A>C XP_006714291.1:p.Arg588=
XM_011532003.1:c.1678A>C XP_011530305.1:p.Arg560=
XM_011532004.1:c.1546A>C XP_011530306.1:p.Arg516=
XM_011532005.1:c.1762A>C XP_011530307.1:p.Arg588=
XM_011532005.2:c.1762A>C XP_011530307.1:p.Arg588=
XM_017008249.1:c.1141A>C XP_016863738.1:p.Arg381=
XM_017008251.1:c.1057A>C XP_016863740.1:p.Arg353=
XM_017008252.2:c.1057A>C XP_016863741.1:p.Arg353=
XM_017008253.1:c.610A>C XP_016863742.1:p.Arg204=
XM_017008254.1:c.406A>C XP_016863743.1:p.Arg136=
XM_024454065.1:c.1141A>C XP_024309833.1:p.Arg381=
XR_001741233.1:n.2342A>C
XR_001741234.2:n.2155A>C
NM_001199397.3:c.1762A>C MANE Select NP_001186326.1:p.Arg588=
NM_001199398.2:c.1630A>C NP_001186327.1:p.Arg544=
NM_001199399.2:c.1471A>C NP_001186328.1:p.Arg491=
NM_001199400.2:c.1546A>C NP_001186329.1:p.Arg516=
NM_001374418.1:c.1762A>C NP_001361347.1:p.Arg588=
NM_001374419.1:c.1678A>C NP_001361348.1:p.Arg560=
NM_001374420.1:c.1627A>C NP_001361349.1:p.Arg543=
NM_001374421.1:c.1552A>C NP_001361350.1:p.Arg518=
NM_012224.3:c.1678A>C NP_036356.1:p.Arg560=
NR_164630.1:n.2224A>C
NM_001199398.3:c.1630A>C NP_001186327.1:p.Arg544=
NM_001199399.3:c.1471A>C NP_001186328.1:p.Arg491=
NM_001199400.3:c.1546A>C NP_001186329.1:p.Arg516=
NM_012224.4:c.1678A>C NP_036356.1:p.Arg560=