Canonical Allele Identifier: CA3137249
Gene: NEK1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169424728T>C , CM000666.2:g.169424728T>C GRCh38
NC_000004.11:g.170345879T>C , CM000666.1:g.170345879T>C GRCh37
NC_000004.10:g.170582454T>C NCBI36
NG_027982.1:g.192900A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000685111.1:c.2879A>G ENSP00000508844.1:p.His960Arg
ENST00000685677.1:n.2345A>G
ENST00000686697.1:c.2564A>G ENSP00000508689.1:p.His855Arg
ENST00000687054.1:n.3541A>G
ENST00000687528.1:c.*1782A>G ENSP00000510228.1:n.*1782A>G
ENST00000687643.1:c.2990A>G ENSP00000509309.1:p.His997Arg
ENST00000688934.1:c.1070A>G ENSP00000510760.1:p.His357Arg
ENST00000690540.1:n.2497A>G
ENST00000507142.6:c.3047A>G MANE Select ENSP00000424757.2:p.His1016Arg
ENST00000638824.1:n.1175A>G
ENST00000439128.6:c.2963A>G ENSP00000408020.2:p.His988Arg
ENST00000507142.5:c.3047A>G ENSP00000424757.1:p.His1016Arg
ENST00000510533.5:c.2831A>G ENSP00000427653.1:p.His944Arg
ENST00000511633.5:c.2915A>G ENSP00000423332.1:p.His972Arg
ENST00000512193.5:c.2756A>G ENSP00000424938.1:p.His919Arg
NM_001199397.1:c.3047A>G NP_001186326.1:p.His1016Arg
NM_001199398.1:c.2915A>G NP_001186327.1:p.His972Arg
NM_001199399.1:c.2756A>G NP_001186328.1:p.His919Arg
NM_001199400.1:c.2831A>G NP_001186329.1:p.His944Arg
NM_012224.2:c.2963A>G NP_036356.1:p.His988Arg
XM_006714228.1:c.2870A>G XP_006714291.1:p.His957Arg
XM_011532003.1:c.2963A>G XP_011530305.1:p.His988Arg
XM_011532004.1:c.2831A>G XP_011530306.1:p.His944Arg
XM_017008249.1:c.2426A>G XP_016863738.1:p.His809Arg
XM_017008251.1:c.2342A>G XP_016863740.1:p.His781Arg
XM_017008252.2:c.2342A>G XP_016863741.1:p.His781Arg
XM_017008253.1:c.1895A>G XP_016863742.1:p.His632Arg
XM_017008254.1:c.1691A>G XP_016863743.1:p.His564Arg
XM_024454065.1:c.2426A>G XP_024309833.1:p.His809Arg
XR_001741233.1:n.3332A>G
NM_001199397.3:c.3047A>G MANE Select NP_001186326.1:p.His1016Arg
NM_001199398.2:c.2915A>G NP_001186327.1:p.His972Arg
NM_001199399.2:c.2756A>G NP_001186328.1:p.His919Arg
NM_001199400.2:c.2831A>G NP_001186329.1:p.His944Arg
NM_001374418.1:c.3047A>G NP_001361347.1:p.His1016Arg
NM_001374419.1:c.2963A>G NP_001361348.1:p.His988Arg
NM_001374420.1:c.2912A>G NP_001361349.1:p.His971Arg
NM_001374421.1:c.2564A>G NP_001361350.1:p.His855Arg
NM_012224.3:c.2963A>G NP_036356.1:p.His988Arg
NR_164630.1:n.3509A>G
NM_001199398.3:c.2915A>G NP_001186327.1:p.His972Arg
NM_001199399.3:c.2756A>G NP_001186328.1:p.His919Arg
NM_001199400.3:c.2831A>G NP_001186329.1:p.His944Arg
NM_012224.4:c.2963A>G NP_036356.1:p.His988Arg