Canonical Allele Identifier: CA358800277

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169401654G>T , CM000666.2:g.169401654G>T	GRCh38
NC_000004.11:g.170322805G>T , CM000666.1:g.170322805G>T	GRCh37
NC_000004.10:g.170559380G>T	NCBI36
NG_027982.1:g.215974C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001199397.3:c.3581C>A MANE Select	NP_001186326.1:p.Ser1194Ter
ENST00000507142.6:c.3581C>A MANE Select	ENSP00000424757.2:p.Ser1194Ter
NM_001199397.1:c.3581C>A	NP_001186326.1:p.Ser1194Ter
NM_001199398.1:c.3449C>A	NP_001186327.1:p.Ser1150Ter
NM_001199398.2:c.3449C>A	NP_001186327.1:p.Ser1150Ter
NM_001199398.3:c.3449C>A	NP_001186327.1:p.Ser1150Ter
NM_001199399.1:c.3290C>A	NP_001186328.1:p.Ser1097Ter
NM_001199399.2:c.3290C>A	NP_001186328.1:p.Ser1097Ter
NM_001199399.3:c.3290C>A	NP_001186328.1:p.Ser1097Ter
NM_001199400.1:c.3365C>A	NP_001186329.1:p.Ser1122Ter
NM_001199400.2:c.3365C>A	NP_001186329.1:p.Ser1122Ter
NM_001199400.3:c.3365C>A	NP_001186329.1:p.Ser1122Ter
NM_001374418.1:c.3581C>A	NP_001361347.1:p.Ser1194Ter
NM_001374419.1:c.3497C>A	NP_001361348.1:p.Ser1166Ter
NM_001374420.1:c.3446C>A	NP_001361349.1:p.Ser1149Ter
NM_001374421.1:c.3098C>A	NP_001361350.1:p.Ser1033Ter
NM_012224.2:c.3497C>A	NP_036356.1:p.Ser1166Ter
NM_012224.3:c.3497C>A	NP_036356.1:p.Ser1166Ter
NM_012224.4:c.3497C>A	NP_036356.1:p.Ser1166Ter
NR_164630.1:n.4043C>A
ENST00000439128.6:c.3497C>A	ENSP00000408020.2:p.Ser1166Ter
ENST00000507142.5:c.3581C>A	ENSP00000424757.1:p.Ser1194Ter
ENST00000510533.5:c.3365C>A	ENSP00000427653.1:p.Ser1122Ter
ENST00000511633.5:c.3449C>A	ENSP00000423332.1:p.Ser1150Ter
ENST00000512193.5:c.3290C>A	ENSP00000424938.1:p.Ser1097Ter
ENST00000638824.1:n.1709C>A
ENST00000685111.1:c.3413C>A	ENSP00000508844.1:p.Ser1138Ter
ENST00000685677.1:n.2879C>A
ENST00000686697.1:c.3098C>A	ENSP00000508689.1:p.Ser1033Ter
ENST00000687054.1:n.4075C>A
ENST00000687528.1:c.*2316C>A	ENSP00000510228.1:n.*2316C>A
ENST00000687643.1:c.3524C>A	ENSP00000509309.1:p.Ser1175Ter
ENST00000688934.1:c.1604C>A	ENSP00000510760.1:p.Ser535Ter
ENST00000690540.1:n.3031C>A
XM_006714228.1:c.3404C>A	XP_006714291.1:p.Ser1135Ter
XM_011532003.1:c.3497C>A	XP_011530305.1:p.Ser1166Ter
XM_011532004.1:c.3365C>A	XP_011530306.1:p.Ser1122Ter
XM_017008249.1:c.2960C>A	XP_016863738.1:p.Ser987Ter
XM_017008251.1:c.2876C>A	XP_016863740.1:p.Ser959Ter
XM_017008252.2:c.2876C>A	XP_016863741.1:p.Ser959Ter
XM_017008253.1:c.2429C>A	XP_016863742.1:p.Ser810Ter
XM_017008254.1:c.2225C>A	XP_016863743.1:p.Ser742Ter
XM_024454065.1:c.2960C>A	XP_024309833.1:p.Ser987Ter
XR_001741233.1:n.3866C>A