Canonical Allele Identifier: CA358800709

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169401844C>G , CM000666.2:g.169401844C>G	GRCh38
NC_000004.11:g.170322995C>G , CM000666.1:g.170322995C>G	GRCh37
NC_000004.10:g.170559570C>G	NCBI36
NG_027982.1:g.215784G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001199397.3:c.3391G>C MANE Select	NP_001186326.1:p.Asp1131His
ENST00000507142.6:c.3391G>C MANE Select	ENSP00000424757.2:p.Asp1131His
NM_001199397.1:c.3391G>C	NP_001186326.1:p.Asp1131His
NM_001199398.1:c.3259G>C	NP_001186327.1:p.Asp1087His
NM_001199398.2:c.3259G>C	NP_001186327.1:p.Asp1087His
NM_001199398.3:c.3259G>C	NP_001186327.1:p.Asp1087His
NM_001199399.1:c.3100G>C	NP_001186328.1:p.Asp1034His
NM_001199399.2:c.3100G>C	NP_001186328.1:p.Asp1034His
NM_001199399.3:c.3100G>C	NP_001186328.1:p.Asp1034His
NM_001199400.1:c.3175G>C	NP_001186329.1:p.Asp1059His
NM_001199400.2:c.3175G>C	NP_001186329.1:p.Asp1059His
NM_001199400.3:c.3175G>C	NP_001186329.1:p.Asp1059His
NM_001374418.1:c.3391G>C	NP_001361347.1:p.Asp1131His
NM_001374419.1:c.3307G>C	NP_001361348.1:p.Asp1103His
NM_001374420.1:c.3256G>C	NP_001361349.1:p.Asp1086His
NM_001374421.1:c.2908G>C	NP_001361350.1:p.Asp970His
NM_012224.2:c.3307G>C	NP_036356.1:p.Asp1103His
NM_012224.3:c.3307G>C	NP_036356.1:p.Asp1103His
NM_012224.4:c.3307G>C	NP_036356.1:p.Asp1103His
NR_164630.1:n.3853G>C
ENST00000439128.6:c.3307G>C	ENSP00000408020.2:p.Asp1103His
ENST00000507142.5:c.3391G>C	ENSP00000424757.1:p.Asp1131His
ENST00000510533.5:c.3175G>C	ENSP00000427653.1:p.Asp1059His
ENST00000511633.5:c.3259G>C	ENSP00000423332.1:p.Asp1087His
ENST00000512193.5:c.3100G>C	ENSP00000424938.1:p.Asp1034His
ENST00000638824.1:n.1519G>C
ENST00000685111.1:c.3223G>C	ENSP00000508844.1:p.Asp1075His
ENST00000685677.1:n.2689G>C
ENST00000686697.1:c.2908G>C	ENSP00000508689.1:p.Asp970His
ENST00000687054.1:n.3885G>C
ENST00000687528.1:c.*2126G>C	ENSP00000510228.1:n.*2126G>C
ENST00000687643.1:c.3334G>C	ENSP00000509309.1:p.Asp1112His
ENST00000688934.1:c.1414G>C	ENSP00000510760.1:p.Asp472His
ENST00000690540.1:n.2841G>C
XM_006714228.1:c.3214G>C	XP_006714291.1:p.Asp1072His
XM_011532003.1:c.3307G>C	XP_011530305.1:p.Asp1103His
XM_011532004.1:c.3175G>C	XP_011530306.1:p.Asp1059His
XM_017008249.1:c.2770G>C	XP_016863738.1:p.Asp924His
XM_017008251.1:c.2686G>C	XP_016863740.1:p.Asp896His
XM_017008252.2:c.2686G>C	XP_016863741.1:p.Asp896His
XM_017008253.1:c.2239G>C	XP_016863742.1:p.Asp747His
XM_017008254.1:c.2035G>C	XP_016863743.1:p.Asp679His
XM_024454065.1:c.2770G>C	XP_024309833.1:p.Asp924His
XR_001741233.1:n.3676G>C