Canonical Allele Identifier: CA3137189

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169406681C>G , CM000666.2:g.169406681C>G	GRCh38
NC_000004.11:g.170327832C>G , CM000666.1:g.170327832C>G	GRCh37
NC_000004.10:g.170564407C>G	NCBI36
NG_027982.1:g.210947G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001199397.3:c.3289G>C MANE Select	NP_001186326.1:p.Val1097Leu
ENST00000507142.6:c.3289G>C MANE Select	ENSP00000424757.2:p.Val1097Leu
NM_001199397.1:c.3289G>C	NP_001186326.1:p.Val1097Leu
NM_001199398.1:c.3157G>C	NP_001186327.1:p.Val1053Leu
NM_001199398.2:c.3157G>C	NP_001186327.1:p.Val1053Leu
NM_001199398.3:c.3157G>C	NP_001186327.1:p.Val1053Leu
NM_001199399.1:c.2998G>C	NP_001186328.1:p.Val1000Leu
NM_001199399.2:c.2998G>C	NP_001186328.1:p.Val1000Leu
NM_001199399.3:c.2998G>C	NP_001186328.1:p.Val1000Leu
NM_001199400.1:c.3073G>C	NP_001186329.1:p.Val1025Leu
NM_001199400.2:c.3073G>C	NP_001186329.1:p.Val1025Leu
NM_001199400.3:c.3073G>C	NP_001186329.1:p.Val1025Leu
NM_001374418.1:c.3289G>C	NP_001361347.1:p.Val1097Leu
NM_001374419.1:c.3205G>C	NP_001361348.1:p.Val1069Leu
NM_001374420.1:c.3154G>C	NP_001361349.1:p.Val1052Leu
NM_001374421.1:c.2806G>C	NP_001361350.1:p.Val936Leu
NM_012224.2:c.3205G>C	NP_036356.1:p.Val1069Leu
NM_012224.3:c.3205G>C	NP_036356.1:p.Val1069Leu
NM_012224.4:c.3205G>C	NP_036356.1:p.Val1069Leu
NR_164630.1:n.3751G>C
ENST00000439128.6:c.3205G>C	ENSP00000408020.2:p.Val1069Leu
ENST00000507142.5:c.3289G>C	ENSP00000424757.1:p.Val1097Leu
ENST00000510533.5:c.3073G>C	ENSP00000427653.1:p.Val1025Leu
ENST00000511633.5:c.3157G>C	ENSP00000423332.1:p.Val1053Leu
ENST00000512193.5:c.2998G>C	ENSP00000424938.1:p.Val1000Leu
ENST00000638824.1:n.1417G>C
ENST00000685111.1:c.3121G>C	ENSP00000508844.1:p.Val1041Leu
ENST00000685677.1:n.2587G>C
ENST00000686697.1:c.2806G>C	ENSP00000508689.1:p.Val936Leu
ENST00000687054.1:n.3783G>C
ENST00000687528.1:c.*2024G>C	ENSP00000510228.1:n.*2024G>C
ENST00000687643.1:c.3232G>C	ENSP00000509309.1:p.Val1078Leu
ENST00000688934.1:c.1312G>C	ENSP00000510760.1:p.Val438Leu
ENST00000690540.1:n.2739G>C
XM_006714228.1:c.3112G>C	XP_006714291.1:p.Val1038Leu
XM_011532003.1:c.3205G>C	XP_011530305.1:p.Val1069Leu
XM_011532004.1:c.3073G>C	XP_011530306.1:p.Val1025Leu
XM_017008249.1:c.2668G>C	XP_016863738.1:p.Val890Leu
XM_017008251.1:c.2584G>C	XP_016863740.1:p.Val862Leu
XM_017008252.2:c.2584G>C	XP_016863741.1:p.Val862Leu
XM_017008253.1:c.2137G>C	XP_016863742.1:p.Val713Leu
XM_017008254.1:c.1933G>C	XP_016863743.1:p.Val645Leu
XM_024454065.1:c.2668G>C	XP_024309833.1:p.Val890Leu
XR_001741233.1:n.3574G>C