Canonical Allele Identifier: CA3137136

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169401644T>G , CM000666.2:g.169401644T>G	GRCh38
NC_000004.11:g.170322795T>G , CM000666.1:g.170322795T>G	GRCh37
NC_000004.10:g.170559370T>G	NCBI36
NG_027982.1:g.215984A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.3415+8A>C	ENSP00000508844.1:n.3415+8A>C
ENST00000685677.1:n.2881+8A>C
ENST00000686697.1:c.3100+8A>C	ENSP00000508689.1:n.3100+8A>C
ENST00000687054.1:n.4077+8A>C
ENST00000687528.1:c.*2318+8A>C	ENSP00000510228.1:n.*2318+8A>C
ENST00000687643.1:c.3526+8A>C	ENSP00000509309.1:n.3526+8A>C
ENST00000688934.1:c.1606+8A>C	ENSP00000510760.1:n.1606+8A>C
ENST00000690540.1:n.3033+8A>C
ENST00000507142.6:c.3583+8A>C MANE Select	ENSP00000424757.2:n.3583+8A>C
ENST00000638824.1:n.1711+8A>C
ENST00000439128.6:c.3499+8A>C	ENSP00000408020.2:n.3499+8A>C
ENST00000507142.5:c.3583+8A>C	ENSP00000424757.1:n.3583+8A>C
ENST00000510533.5:c.3367+8A>C	ENSP00000427653.1:n.3367+8A>C
ENST00000511633.5:c.3451+8A>C	ENSP00000423332.1:n.3451+8A>C
ENST00000512193.5:c.3292+8A>C	ENSP00000424938.1:n.3292+8A>C
NM_001199397.1:c.3583+8A>C	NP_001186326.1:n.3583+8A>C
NM_001199398.1:c.3451+8A>C	NP_001186327.1:n.3451+8A>C
NM_001199399.1:c.3292+8A>C	NP_001186328.1:n.3292+8A>C
NM_001199400.1:c.3367+8A>C	NP_001186329.1:n.3367+8A>C
NM_012224.2:c.3499+8A>C	NP_036356.1:n.3499+8A>C
XM_006714228.1:c.3406+8A>C	XP_006714291.1:n.3406+8A>C
XM_011532003.1:c.3499+8A>C	XP_011530305.1:n.3499+8A>C
XM_011532004.1:c.3367+8A>C	XP_011530306.1:n.3367+8A>C
XM_017008249.1:c.2962+8A>C	XP_016863738.1:n.2962+8A>C
XM_017008251.1:c.2878+8A>C	XP_016863740.1:n.2878+8A>C
XM_017008252.2:c.2878+8A>C	XP_016863741.1:n.2878+8A>C
XM_017008253.1:c.2431+8A>C	XP_016863742.1:n.2431+8A>C
XM_017008254.1:c.2227+8A>C	XP_016863743.1:n.2227+8A>C
XM_024454065.1:c.2962+8A>C	XP_024309833.1:n.2962+8A>C
XR_001741233.1:n.3868+8A>C
NM_001199397.3:c.3583+8A>C MANE Select	NP_001186326.1:n.3583+8A>C
NM_001199398.2:c.3451+8A>C	NP_001186327.1:n.3451+8A>C
NM_001199399.2:c.3292+8A>C	NP_001186328.1:n.3292+8A>C
NM_001199400.2:c.3367+8A>C	NP_001186329.1:n.3367+8A>C
NM_001374418.1:c.3583+8A>C	NP_001361347.1:n.3583+8A>C
NM_001374419.1:c.3499+8A>C	NP_001361348.1:n.3499+8A>C
NM_001374420.1:c.3448+8A>C	NP_001361349.1:n.3448+8A>C
NM_001374421.1:c.3100+8A>C	NP_001361350.1:n.3100+8A>C
NM_012224.3:c.3499+8A>C	NP_036356.1:n.3499+8A>C
NR_164630.1:n.4045+8A>C
NM_001199398.3:c.3451+8A>C	NP_001186327.1:n.3451+8A>C
NM_001199399.3:c.3292+8A>C	NP_001186328.1:n.3292+8A>C
NM_001199400.3:c.3367+8A>C	NP_001186329.1:n.3367+8A>C
NM_012224.4:c.3499+8A>C	NP_036356.1:n.3499+8A>C