Canonical Allele Identifier: CA3137426

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169477158C>G , CM000666.2:g.169477158C>G	GRCh38
NC_000004.11:g.170398309C>G , CM000666.1:g.170398309C>G	GRCh37
NC_000004.10:g.170634884C>G	NCBI36
NG_027982.1:g.140470G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.2232G>C	ENSP00000508844.1:p.Glu744Asp
ENST00000685677.1:n.1698G>C
ENST00000686697.1:c.2094G>C	ENSP00000508689.1:p.Glu698Asp
ENST00000687054.1:n.2894G>C
ENST00000687528.1:c.*1135G>C	ENSP00000510228.1:n.*1135G>C
ENST00000687643.1:c.2343G>C	ENSP00000509309.1:p.Glu781Asp
ENST00000688934.1:c.423G>C	ENSP00000510760.1:p.Glu141Asp
ENST00000690540.1:n.1850G>C
ENST00000507142.6:c.2400G>C MANE Select	ENSP00000424757.2:p.Glu800Asp
ENST00000638824.1:n.528G>C
ENST00000439128.6:c.2316G>C	ENSP00000408020.2:p.Glu772Asp
ENST00000507142.5:c.2400G>C	ENSP00000424757.1:p.Glu800Asp
ENST00000510533.5:c.2184G>C	ENSP00000427653.1:p.Glu728Asp
ENST00000511633.5:c.2268G>C	ENSP00000423332.1:p.Glu756Asp
ENST00000512193.5:c.2109G>C	ENSP00000424938.1:p.Glu703Asp
NM_001199397.1:c.2400G>C	NP_001186326.1:p.Glu800Asp
NM_001199398.1:c.2268G>C	NP_001186327.1:p.Glu756Asp
NM_001199399.1:c.2109G>C	NP_001186328.1:p.Glu703Asp
NM_001199400.1:c.2184G>C	NP_001186329.1:p.Glu728Asp
NM_012224.2:c.2316G>C	NP_036356.1:p.Glu772Asp
XM_006714228.1:c.2400G>C	XP_006714291.1:p.Glu800Asp
XM_011532003.1:c.2316G>C	XP_011530305.1:p.Glu772Asp
XM_011532004.1:c.2184G>C	XP_011530306.1:p.Glu728Asp
XM_017008249.1:c.1779G>C	XP_016863738.1:p.Glu593Asp
XM_017008251.1:c.1695G>C	XP_016863740.1:p.Glu565Asp
XM_017008252.2:c.1695G>C	XP_016863741.1:p.Glu565Asp
XM_017008253.1:c.1248G>C	XP_016863742.1:p.Glu416Asp
XM_017008254.1:c.1044G>C	XP_016863743.1:p.Glu348Asp
XM_024454065.1:c.1779G>C	XP_024309833.1:p.Glu593Asp
XR_001741233.1:n.2719+2245G>C
XR_001741234.2:n.3676G>C
NM_001199397.3:c.2400G>C MANE Select	NP_001186326.1:p.Glu800Asp
NM_001199398.2:c.2268G>C	NP_001186327.1:p.Glu756Asp
NM_001199399.2:c.2109G>C	NP_001186328.1:p.Glu703Asp
NM_001199400.2:c.2184G>C	NP_001186329.1:p.Glu728Asp
NM_001374418.1:c.2400G>C	NP_001361347.1:p.Glu800Asp
NM_001374419.1:c.2316G>C	NP_001361348.1:p.Glu772Asp
NM_001374420.1:c.2265G>C	NP_001361349.1:p.Glu755Asp
NM_001374421.1:c.2094G>C	NP_001361350.1:p.Glu698Asp
NM_012224.3:c.2316G>C	NP_036356.1:p.Glu772Asp
NR_164630.1:n.2862G>C
NM_001199398.3:c.2268G>C	NP_001186327.1:p.Glu756Asp
NM_001199399.3:c.2109G>C	NP_001186328.1:p.Glu703Asp
NM_001199400.3:c.2184G>C	NP_001186329.1:p.Glu728Asp
NM_012224.4:c.2316G>C	NP_036356.1:p.Glu772Asp