Canonical Allele Identifier: CA3137380
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169463246T>C , CM000666.2:g.169463246T>C GRCh38
NC_000004.11:g.170384397T>C , CM000666.1:g.170384397T>C GRCh37
NC_000004.10:g.170620972T>C NCBI36
NG_027982.1:g.154382A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000685111.1:c.2416A>G ENSP00000508844.1:p.Ser806Gly
ENST00000685677.1:n.1882A>G
ENST00000686697.1:c.2278A>G ENSP00000508689.1:p.Ser760Gly
ENST00000687054.1:n.3078A>G
ENST00000687528.1:c.*1319A>G ENSP00000510228.1:n.*1319A>G
ENST00000687643.1:c.2527A>G ENSP00000509309.1:p.Ser843Gly
ENST00000688934.1:c.607A>G ENSP00000510760.1:p.Ser203Gly
ENST00000690540.1:n.2034A>G
ENST00000507142.6:c.2584A>G MANE Select ENSP00000424757.2:p.Ser862Gly
ENST00000638824.1:n.712A>G
ENST00000439128.6:c.2500A>G ENSP00000408020.2:p.Ser834Gly
ENST00000507142.5:c.2584A>G ENSP00000424757.1:p.Ser862Gly
ENST00000510533.5:c.2368A>G ENSP00000427653.1:p.Ser790Gly
ENST00000511633.5:c.2452A>G ENSP00000423332.1:p.Ser818Gly
ENST00000512193.5:c.2293A>G ENSP00000424938.1:p.Ser765Gly
NM_001199397.1:c.2584A>G NP_001186326.1:p.Ser862Gly
NM_001199398.1:c.2452A>G NP_001186327.1:p.Ser818Gly
NM_001199399.1:c.2293A>G NP_001186328.1:p.Ser765Gly
NM_001199400.1:c.2368A>G NP_001186329.1:p.Ser790Gly
NM_012224.2:c.2500A>G NP_036356.1:p.Ser834Gly
XM_006714228.1:c.2584A>G XP_006714291.1:p.Ser862Gly
XM_011532003.1:c.2500A>G XP_011530305.1:p.Ser834Gly
XM_011532004.1:c.2368A>G XP_011530306.1:p.Ser790Gly
XM_017008249.1:c.1963A>G XP_016863738.1:p.Ser655Gly
XM_017008251.1:c.1879A>G XP_016863740.1:p.Ser627Gly
XM_017008252.2:c.1879A>G XP_016863741.1:p.Ser627Gly
XM_017008253.1:c.1432A>G XP_016863742.1:p.Ser478Gly
XM_017008254.1:c.1228A>G XP_016863743.1:p.Ser410Gly
XM_024454065.1:c.1963A>G XP_024309833.1:p.Ser655Gly
XR_001741233.1:n.2869A>G
XR_001741234.2:n.3860A>G
NM_001199397.3:c.2584A>G MANE Select NP_001186326.1:p.Ser862Gly
NM_001199398.2:c.2452A>G NP_001186327.1:p.Ser818Gly
NM_001199399.2:c.2293A>G NP_001186328.1:p.Ser765Gly
NM_001199400.2:c.2368A>G NP_001186329.1:p.Ser790Gly
NM_001374418.1:c.2584A>G NP_001361347.1:p.Ser862Gly
NM_001374419.1:c.2500A>G NP_001361348.1:p.Ser834Gly
NM_001374420.1:c.2449A>G NP_001361349.1:p.Ser817Gly
NM_001374421.1:c.2278A>G NP_001361350.1:p.Ser760Gly
NM_012224.3:c.2500A>G NP_036356.1:p.Ser834Gly
NR_164630.1:n.3046A>G
NM_001199398.3:c.2452A>G NP_001186327.1:p.Ser818Gly
NM_001199399.3:c.2293A>G NP_001186328.1:p.Ser765Gly
NM_001199400.3:c.2368A>G NP_001186329.1:p.Ser790Gly
NM_012224.4:c.2500A>G NP_036356.1:p.Ser834Gly