Canonical Allele Identifier: CA3137344

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169438071A>T , CM000666.2:g.169438071A>T	GRCh38
NC_000004.11:g.170359222A>T , CM000666.1:g.170359222A>T	GRCh37
NC_000004.10:g.170595797A>T	NCBI36
NG_027982.1:g.179557T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.2596+12T>A	ENSP00000508844.1:n.2596+12T>A
ENST00000685677.1:n.2062+12T>A
ENST00000686697.1:c.2282-4406T>A	ENSP00000508689.1:n.2282-4406T>A
ENST00000687054.1:n.3258+12T>A
ENST00000687528.1:c.*1499+12T>A	ENSP00000510228.1:n.*1499+12T>A
ENST00000687643.1:c.2707+12T>A	ENSP00000509309.1:n.2707+12T>A
ENST00000688934.1:c.787+12T>A	ENSP00000510760.1:n.787+12T>A
ENST00000690540.1:n.2214+12T>A
ENST00000507142.6:c.2764+12T>A MANE Select	ENSP00000424757.2:n.2764+12T>A
ENST00000638824.1:n.892+12T>A
ENST00000439128.6:c.2680+12T>A	ENSP00000408020.2:n.2680+12T>A
ENST00000507142.5:c.2764+12T>A	ENSP00000424757.1:n.2764+12T>A
ENST00000510533.5:c.2548+12T>A	ENSP00000427653.1:n.2548+12T>A
ENST00000511633.5:c.2632+12T>A	ENSP00000423332.1:n.2632+12T>A
ENST00000512193.5:c.2473+12T>A	ENSP00000424938.1:n.2473+12T>A
NM_001199397.1:c.2764+12T>A	NP_001186326.1:n.2764+12T>A
NM_001199398.1:c.2632+12T>A	NP_001186327.1:n.2632+12T>A
NM_001199399.1:c.2473+12T>A	NP_001186328.1:n.2473+12T>A
NM_001199400.1:c.2548+12T>A	NP_001186329.1:n.2548+12T>A
NM_012224.2:c.2680+12T>A	NP_036356.1:n.2680+12T>A
XM_006714228.1:c.2588-4406T>A	XP_006714291.1:n.2588-4406T>A
XM_011532003.1:c.2680+12T>A	XP_011530305.1:n.2680+12T>A
XM_011532004.1:c.2548+12T>A	XP_011530306.1:n.2548+12T>A
XM_017008249.1:c.2143+12T>A	XP_016863738.1:n.2143+12T>A
XM_017008251.1:c.2059+12T>A	XP_016863740.1:n.2059+12T>A
XM_017008252.2:c.2059+12T>A	XP_016863741.1:n.2059+12T>A
XM_017008253.1:c.1612+12T>A	XP_016863742.1:n.1612+12T>A
XM_017008254.1:c.1408+12T>A	XP_016863743.1:n.1408+12T>A
XM_024454065.1:c.2143+12T>A	XP_024309833.1:n.2143+12T>A
XR_001741233.1:n.3049+12T>A
NM_001199397.3:c.2764+12T>A MANE Select	NP_001186326.1:n.2764+12T>A
NM_001199398.2:c.2632+12T>A	NP_001186327.1:n.2632+12T>A
NM_001199399.2:c.2473+12T>A	NP_001186328.1:n.2473+12T>A
NM_001199400.2:c.2548+12T>A	NP_001186329.1:n.2548+12T>A
NM_001374418.1:c.2764+12T>A	NP_001361347.1:n.2764+12T>A
NM_001374419.1:c.2680+12T>A	NP_001361348.1:n.2680+12T>A
NM_001374420.1:c.2629+12T>A	NP_001361349.1:n.2629+12T>A
NM_001374421.1:c.2282-4406T>A	NP_001361350.1:n.2282-4406T>A
NM_012224.3:c.2680+12T>A	NP_036356.1:n.2680+12T>A
NR_164630.1:n.3226+12T>A
NM_001199398.3:c.2632+12T>A	NP_001186327.1:n.2632+12T>A
NM_001199399.3:c.2473+12T>A	NP_001186328.1:n.2473+12T>A
NM_001199400.3:c.2548+12T>A	NP_001186329.1:n.2548+12T>A
NM_012224.4:c.2680+12T>A	NP_036356.1:n.2680+12T>A