Canonical Allele Identifier: CA442297264
Community Standard Title: NM_001199397.3(NEK1):c.465T>C (p.Ser155=)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169588735A>G , CM000666.2:g.169588735A>G GRCh38
NC_000004.11:g.170509886A>G , CM000666.1:g.170509886A>G GRCh37
NC_000004.10:g.170746461A>G NCBI36
NG_027982.1:g.28893T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.465T>C MANE Select NP_001186326.1:p.Ser155=
ENST00000507142.6:c.465T>C MANE Select ENSP00000424757.2:p.Ser155=
NM_001199397.1:c.465T>C NP_001186326.1:p.Ser155=
NM_001199398.1:c.465T>C NP_001186327.1:p.Ser155=
NM_001199398.2:c.465T>C NP_001186327.1:p.Ser155=
NM_001199398.3:c.465T>C NP_001186327.1:p.Ser155=
NM_001199399.1:c.465T>C NP_001186328.1:p.Ser155=
NM_001199399.2:c.465T>C NP_001186328.1:p.Ser155=
NM_001199399.3:c.465T>C NP_001186328.1:p.Ser155=
NM_001199400.1:c.465T>C NP_001186329.1:p.Ser155=
NM_001199400.2:c.465T>C NP_001186329.1:p.Ser155=
NM_001199400.3:c.465T>C NP_001186329.1:p.Ser155=
NM_001374418.1:c.465T>C NP_001361347.1:p.Ser155=
NM_001374419.1:c.465T>C NP_001361348.1:p.Ser155=
NM_001374420.1:c.465T>C NP_001361349.1:p.Ser155=
NM_001374421.1:c.465T>C NP_001361350.1:p.Ser155=
NM_001374422.1:c.465T>C NP_001361351.1:p.Ser155=
NM_001374423.1:c.465T>C NP_001361352.1:p.Ser155=
NM_012224.2:c.465T>C NP_036356.1:p.Ser155=
NM_012224.3:c.465T>C NP_036356.1:p.Ser155=
NM_012224.4:c.465T>C NP_036356.1:p.Ser155=
NR_164630.1:n.979T>C
NR_164631.1:n.901T>C
ENST00000439128.6:c.465T>C ENSP00000408020.2:p.Ser155=
ENST00000505119.2:c.465T>C ENSP00000421525.2:p.Ser155=
ENST00000507142.5:c.465T>C ENSP00000424757.1:p.Ser155=
ENST00000509912.5:n.197T>C
ENST00000510108.1:c.*230T>C ENSP00000424152.1:n.*230T>C
ENST00000510533.5:c.465T>C ENSP00000427653.1:p.Ser155=
ENST00000511633.5:c.465T>C ENSP00000423332.1:p.Ser155=
ENST00000512193.5:c.465T>C ENSP00000424938.1:p.Ser155=
ENST00000685111.1:c.381T>C ENSP00000508844.1:p.Ser127=
ENST00000686697.1:c.465T>C ENSP00000508689.1:p.Ser155=
ENST00000687054.1:n.1043T>C
ENST00000687219.1:c.*103T>C ENSP00000509736.1:n.*103T>C
ENST00000687528.1:c.465T>C ENSP00000510228.1:p.Ser155=
ENST00000687643.1:c.492T>C ENSP00000509309.1:p.Ser164=
ENST00000688487.1:n.980T>C
ENST00000688653.1:n.1042T>C
ENST00000688934.1:c.-133+23285T>C ENSP00000510760.1:n.-133+23285T>C
ENST00000690631.1:n.1042T>C
ENST00000692218.1:n.1119T>C
ENST00000692450.1:c.*317T>C ENSP00000510283.1:n.*317T>C
ENST00000692868.1:c.*103T>C ENSP00000510531.1:n.*103T>C
ENST00000693085.1:c.*292T>C ENSP00000508746.1:n.*292T>C
ENST00000693604.1:c.465T>C ENSP00000509917.1:p.Ser155=
XM_006714228.1:c.465T>C XP_006714291.1:p.Ser155=
XM_011532003.1:c.465T>C XP_011530305.1:p.Ser155=
XM_011532004.1:c.465T>C XP_011530306.1:p.Ser155=
XM_011532005.1:c.465T>C XP_011530307.1:p.Ser155=
XM_011532005.2:c.465T>C XP_011530307.1:p.Ser155=
XM_017008249.1:c.-157T>C XP_016863738.1:n.-157T>C
XM_017008251.1:c.-157T>C XP_016863740.1:n.-157T>C
XM_017008252.2:c.-102T>C XP_016863741.1:n.-102T>C
XM_017008253.1:c.-536T>C XP_016863742.1:n.-536T>C
XM_024454065.1:c.-102T>C XP_024309833.1:n.-102T>C
XR_001741233.1:n.1045T>C
XR_001741234.2:n.990T>C