Canonical Allele Identifier: CA3137355

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169438200A>G , CM000666.2:g.169438200A>G	GRCh38
NC_000004.11:g.170359351A>G , CM000666.1:g.170359351A>G	GRCh37
NC_000004.10:g.170595926A>G	NCBI36
NG_027982.1:g.179428T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001199397.3:c.2647T>C MANE Select	NP_001186326.1:p.Cys883Arg
ENST00000507142.6:c.2647T>C MANE Select	ENSP00000424757.2:p.Cys883Arg
NM_001199397.1:c.2647T>C	NP_001186326.1:p.Cys883Arg
NM_001199398.1:c.2515T>C	NP_001186327.1:p.Cys839Arg
NM_001199398.2:c.2515T>C	NP_001186327.1:p.Cys839Arg
NM_001199398.3:c.2515T>C	NP_001186327.1:p.Cys839Arg
NM_001199399.1:c.2356T>C	NP_001186328.1:p.Cys786Arg
NM_001199399.2:c.2356T>C	NP_001186328.1:p.Cys786Arg
NM_001199399.3:c.2356T>C	NP_001186328.1:p.Cys786Arg
NM_001199400.1:c.2431T>C	NP_001186329.1:p.Cys811Arg
NM_001199400.2:c.2431T>C	NP_001186329.1:p.Cys811Arg
NM_001199400.3:c.2431T>C	NP_001186329.1:p.Cys811Arg
NM_001374418.1:c.2647T>C	NP_001361347.1:p.Cys883Arg
NM_001374419.1:c.2563T>C	NP_001361348.1:p.Cys855Arg
NM_001374420.1:c.2512T>C	NP_001361349.1:p.Cys838Arg
NM_001374421.1:c.2282-4535T>C	NP_001361350.1:n.2282-4535T>C
NM_012224.2:c.2563T>C	NP_036356.1:p.Cys855Arg
NM_012224.3:c.2563T>C	NP_036356.1:p.Cys855Arg
NM_012224.4:c.2563T>C	NP_036356.1:p.Cys855Arg
NR_164630.1:n.3109T>C
ENST00000439128.6:c.2563T>C	ENSP00000408020.2:p.Cys855Arg
ENST00000507142.5:c.2647T>C	ENSP00000424757.1:p.Cys883Arg
ENST00000510533.5:c.2431T>C	ENSP00000427653.1:p.Cys811Arg
ENST00000511633.5:c.2515T>C	ENSP00000423332.1:p.Cys839Arg
ENST00000512193.5:c.2356T>C	ENSP00000424938.1:p.Cys786Arg
ENST00000638824.1:n.775T>C
ENST00000685111.1:c.2479T>C	ENSP00000508844.1:p.Cys827Arg
ENST00000685677.1:n.1945T>C
ENST00000686697.1:c.2282-4535T>C	ENSP00000508689.1:n.2282-4535T>C
ENST00000687054.1:n.3141T>C
ENST00000687528.1:c.*1382T>C	ENSP00000510228.1:n.*1382T>C
ENST00000687643.1:c.2590T>C	ENSP00000509309.1:p.Cys864Arg
ENST00000688934.1:c.670T>C	ENSP00000510760.1:p.Cys224Arg
ENST00000690540.1:n.2097T>C
XM_006714228.1:c.2588-4535T>C	XP_006714291.1:n.2588-4535T>C
XM_011532003.1:c.2563T>C	XP_011530305.1:p.Cys855Arg
XM_011532004.1:c.2431T>C	XP_011530306.1:p.Cys811Arg
XM_017008249.1:c.2026T>C	XP_016863738.1:p.Cys676Arg
XM_017008251.1:c.1942T>C	XP_016863740.1:p.Cys648Arg
XM_017008252.2:c.1942T>C	XP_016863741.1:p.Cys648Arg
XM_017008253.1:c.1495T>C	XP_016863742.1:p.Cys499Arg
XM_017008254.1:c.1291T>C	XP_016863743.1:p.Cys431Arg
XM_024454065.1:c.2026T>C	XP_024309833.1:p.Cys676Arg
XR_001741233.1:n.2932T>C