Canonical Allele Identifier: CA3137431

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169477183C>T , CM000666.2:g.169477183C>T	GRCh38
NC_000004.11:g.170398334C>T , CM000666.1:g.170398334C>T	GRCh37
NC_000004.10:g.170634909C>T	NCBI36
NG_027982.1:g.140445G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001199397.3:c.2375G>A MANE Select	NP_001186326.1:p.Gly792Asp
ENST00000507142.6:c.2375G>A MANE Select	ENSP00000424757.2:p.Gly792Asp
NM_001199397.1:c.2375G>A	NP_001186326.1:p.Gly792Asp
NM_001199398.1:c.2243G>A	NP_001186327.1:p.Gly748Asp
NM_001199398.2:c.2243G>A	NP_001186327.1:p.Gly748Asp
NM_001199398.3:c.2243G>A	NP_001186327.1:p.Gly748Asp
NM_001199399.1:c.2084G>A	NP_001186328.1:p.Gly695Asp
NM_001199399.2:c.2084G>A	NP_001186328.1:p.Gly695Asp
NM_001199399.3:c.2084G>A	NP_001186328.1:p.Gly695Asp
NM_001199400.1:c.2159G>A	NP_001186329.1:p.Gly720Asp
NM_001199400.2:c.2159G>A	NP_001186329.1:p.Gly720Asp
NM_001199400.3:c.2159G>A	NP_001186329.1:p.Gly720Asp
NM_001374418.1:c.2375G>A	NP_001361347.1:p.Gly792Asp
NM_001374419.1:c.2291G>A	NP_001361348.1:p.Gly764Asp
NM_001374420.1:c.2240G>A	NP_001361349.1:p.Gly747Asp
NM_001374421.1:c.2069G>A	NP_001361350.1:p.Gly690Asp
NM_012224.2:c.2291G>A	NP_036356.1:p.Gly764Asp
NM_012224.3:c.2291G>A	NP_036356.1:p.Gly764Asp
NM_012224.4:c.2291G>A	NP_036356.1:p.Gly764Asp
NR_164630.1:n.2837G>A
ENST00000439128.6:c.2291G>A	ENSP00000408020.2:p.Gly764Asp
ENST00000507142.5:c.2375G>A	ENSP00000424757.1:p.Gly792Asp
ENST00000510533.5:c.2159G>A	ENSP00000427653.1:p.Gly720Asp
ENST00000511633.5:c.2243G>A	ENSP00000423332.1:p.Gly748Asp
ENST00000512193.5:c.2084G>A	ENSP00000424938.1:p.Gly695Asp
ENST00000638824.1:n.503G>A
ENST00000685111.1:c.2207G>A	ENSP00000508844.1:p.Gly736Asp
ENST00000685677.1:n.1673G>A
ENST00000686697.1:c.2069G>A	ENSP00000508689.1:p.Gly690Asp
ENST00000687054.1:n.2869G>A
ENST00000687528.1:c.*1110G>A	ENSP00000510228.1:n.*1110G>A
ENST00000687643.1:c.2318G>A	ENSP00000509309.1:p.Gly773Asp
ENST00000688934.1:c.398G>A	ENSP00000510760.1:p.Gly133Asp
ENST00000690540.1:n.1825G>A
XM_006714228.1:c.2375G>A	XP_006714291.1:p.Gly792Asp
XM_011532003.1:c.2291G>A	XP_011530305.1:p.Gly764Asp
XM_011532004.1:c.2159G>A	XP_011530306.1:p.Gly720Asp
XM_017008249.1:c.1754G>A	XP_016863738.1:p.Gly585Asp
XM_017008251.1:c.1670G>A	XP_016863740.1:p.Gly557Asp
XM_017008252.2:c.1670G>A	XP_016863741.1:p.Gly557Asp
XM_017008253.1:c.1223G>A	XP_016863742.1:p.Gly408Asp
XM_017008254.1:c.1019G>A	XP_016863743.1:p.Gly340Asp
XM_024454065.1:c.1754G>A	XP_024309833.1:p.Gly585Asp
XR_001741233.1:n.2719+2220G>A
XR_001741234.2:n.3651G>A