Canonical Allele Identifier: CA3137227

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169424634C>T , CM000666.2:g.169424634C>T	GRCh38
NC_000004.11:g.170345785C>T , CM000666.1:g.170345785C>T	GRCh37
NC_000004.10:g.170582360C>T	NCBI36
NG_027982.1:g.192994G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001199397.3:c.3141G>A MANE Select	NP_001186326.1:p.Ser1047=
ENST00000507142.6:c.3141G>A MANE Select	ENSP00000424757.2:p.Ser1047=
NM_001199397.1:c.3141G>A	NP_001186326.1:p.Ser1047=
NM_001199398.1:c.3009G>A	NP_001186327.1:p.Ser1003=
NM_001199398.2:c.3009G>A	NP_001186327.1:p.Ser1003=
NM_001199398.3:c.3009G>A	NP_001186327.1:p.Ser1003=
NM_001199399.1:c.2850G>A	NP_001186328.1:p.Ser950=
NM_001199399.2:c.2850G>A	NP_001186328.1:p.Ser950=
NM_001199399.3:c.2850G>A	NP_001186328.1:p.Ser950=
NM_001199400.1:c.2925G>A	NP_001186329.1:p.Ser975=
NM_001199400.2:c.2925G>A	NP_001186329.1:p.Ser975=
NM_001199400.3:c.2925G>A	NP_001186329.1:p.Ser975=
NM_001374418.1:c.3141G>A	NP_001361347.1:p.Ser1047=
NM_001374419.1:c.3057G>A	NP_001361348.1:p.Ser1019=
NM_001374420.1:c.3006G>A	NP_001361349.1:p.Ser1002=
NM_001374421.1:c.2658G>A	NP_001361350.1:p.Ser886=
NM_012224.2:c.3057G>A	NP_036356.1:p.Ser1019=
NM_012224.3:c.3057G>A	NP_036356.1:p.Ser1019=
NM_012224.4:c.3057G>A	NP_036356.1:p.Ser1019=
NR_164630.1:n.3603G>A
ENST00000439128.6:c.3057G>A	ENSP00000408020.2:p.Ser1019=
ENST00000507142.5:c.3141G>A	ENSP00000424757.1:p.Ser1047=
ENST00000510533.5:c.2925G>A	ENSP00000427653.1:p.Ser975=
ENST00000511633.5:c.3009G>A	ENSP00000423332.1:p.Ser1003=
ENST00000512193.5:c.2850G>A	ENSP00000424938.1:p.Ser950=
ENST00000638824.1:n.1269G>A
ENST00000685111.1:c.2973G>A	ENSP00000508844.1:p.Ser991=
ENST00000685677.1:n.2439G>A
ENST00000686697.1:c.2658G>A	ENSP00000508689.1:p.Ser886=
ENST00000687054.1:n.3635G>A
ENST00000687528.1:c.*1876G>A	ENSP00000510228.1:n.*1876G>A
ENST00000687643.1:c.3084G>A	ENSP00000509309.1:p.Ser1028=
ENST00000688934.1:c.1164G>A	ENSP00000510760.1:p.Ser388=
ENST00000690540.1:n.2591G>A
XM_006714228.1:c.2964G>A	XP_006714291.1:p.Ser988=
XM_011532003.1:c.3057G>A	XP_011530305.1:p.Ser1019=
XM_011532004.1:c.2925G>A	XP_011530306.1:p.Ser975=
XM_017008249.1:c.2520G>A	XP_016863738.1:p.Ser840=
XM_017008251.1:c.2436G>A	XP_016863740.1:p.Ser812=
XM_017008252.2:c.2436G>A	XP_016863741.1:p.Ser812=
XM_017008253.1:c.1989G>A	XP_016863742.1:p.Ser663=
XM_017008254.1:c.1785G>A	XP_016863743.1:p.Ser595=
XM_024454065.1:c.2520G>A	XP_024309833.1:p.Ser840=
XR_001741233.1:n.3426G>A