Canonical Allele Identifier: CA358731786
Gene: NEK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169508316G>C , CM000666.2:g.169508316G>C GRCh38
NC_000004.11:g.170429467G>C , CM000666.1:g.170429467G>C GRCh37
NC_000004.10:g.170666042G>C NCBI36
NG_027982.1:g.109312C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000685111.1:c.1597C>G ENSP00000508844.1:p.Leu533Val
ENST00000685677.1:n.1063C>G
ENST00000686697.1:c.1555C>G ENSP00000508689.1:p.Leu519Val
ENST00000687054.1:n.2259C>G
ENST00000687219.1:c.*1268C>G ENSP00000509736.1:n.*1268C>G
ENST00000687528.1:c.1633C>G ENSP00000510228.1:p.Leu545Val
ENST00000687643.1:c.1708C>G ENSP00000509309.1:p.Leu570Val
ENST00000688934.1:c.-117C>G ENSP00000510760.1:n.-117C>G
ENST00000689190.1:n.1651C>G
ENST00000692450.1:c.*1430C>G ENSP00000510283.1:n.*1430C>G
ENST00000693085.1:c.*1508C>G ENSP00000508746.1:n.*1508C>G
ENST00000693604.1:c.*699C>G ENSP00000509917.1:n.*699C>G
ENST00000507142.6:c.1765C>G MANE Select ENSP00000424757.2:p.Leu589Val
ENST00000439128.6:c.1681C>G ENSP00000408020.2:p.Leu561Val
ENST00000507142.5:c.1765C>G ENSP00000424757.1:p.Leu589Val
ENST00000510533.5:c.1549C>G ENSP00000427653.1:p.Leu517Val
ENST00000511633.5:c.1633C>G ENSP00000423332.1:p.Leu545Val
ENST00000512193.5:c.1474C>G ENSP00000424938.1:p.Leu492Val
NM_001199397.1:c.1765C>G NP_001186326.1:p.Leu589Val
NM_001199398.1:c.1633C>G NP_001186327.1:p.Leu545Val
NM_001199399.1:c.1474C>G NP_001186328.1:p.Leu492Val
NM_001199400.1:c.1549C>G NP_001186329.1:p.Leu517Val
NM_012224.2:c.1681C>G NP_036356.1:p.Leu561Val
XM_006714228.1:c.1765C>G XP_006714291.1:p.Leu589Val
XM_011532003.1:c.1681C>G XP_011530305.1:p.Leu561Val
XM_011532004.1:c.1549C>G XP_011530306.1:p.Leu517Val
XM_011532005.1:c.1765C>G XP_011530307.1:p.Leu589Val
XM_011532005.2:c.1765C>G XP_011530307.1:p.Leu589Val
XM_017008249.1:c.1144C>G XP_016863738.1:p.Leu382Val
XM_017008251.1:c.1060C>G XP_016863740.1:p.Leu354Val
XM_017008252.2:c.1060C>G XP_016863741.1:p.Leu354Val
XM_017008253.1:c.613C>G XP_016863742.1:p.Leu205Val
XM_017008254.1:c.409C>G XP_016863743.1:p.Leu137Val
XM_024454065.1:c.1144C>G XP_024309833.1:p.Leu382Val
XR_001741233.1:n.2345C>G
XR_001741234.2:n.2158C>G
NM_001199397.3:c.1765C>G MANE Select NP_001186326.1:p.Leu589Val
NM_001199398.2:c.1633C>G NP_001186327.1:p.Leu545Val
NM_001199399.2:c.1474C>G NP_001186328.1:p.Leu492Val
NM_001199400.2:c.1549C>G NP_001186329.1:p.Leu517Val
NM_001374418.1:c.1765C>G NP_001361347.1:p.Leu589Val
NM_001374419.1:c.1681C>G NP_001361348.1:p.Leu561Val
NM_001374420.1:c.1630C>G NP_001361349.1:p.Leu544Val
NM_001374421.1:c.1555C>G NP_001361350.1:p.Leu519Val
NM_012224.3:c.1681C>G NP_036356.1:p.Leu561Val
NR_164630.1:n.2227C>G
NM_001199398.3:c.1633C>G NP_001186327.1:p.Leu545Val
NM_001199399.3:c.1474C>G NP_001186328.1:p.Leu492Val
NM_001199400.3:c.1549C>G NP_001186329.1:p.Leu517Val
NM_012224.4:c.1681C>G NP_036356.1:p.Leu561Val