Canonical Allele Identifier: CA358800641

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169401813A>G , CM000666.2:g.169401813A>G	GRCh38
NC_000004.11:g.170322964A>G , CM000666.1:g.170322964A>G	GRCh37
NC_000004.10:g.170559539A>G	NCBI36
NG_027982.1:g.215815T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.3254T>C	ENSP00000508844.1:p.Met1085Thr
ENST00000685677.1:n.2720T>C
ENST00000686697.1:c.2939T>C	ENSP00000508689.1:p.Met980Thr
ENST00000687054.1:n.3916T>C
ENST00000687528.1:c.*2157T>C	ENSP00000510228.1:n.*2157T>C
ENST00000687643.1:c.3365T>C	ENSP00000509309.1:p.Met1122Thr
ENST00000688934.1:c.1445T>C	ENSP00000510760.1:p.Met482Thr
ENST00000690540.1:n.2872T>C
ENST00000507142.6:c.3422T>C MANE Select	ENSP00000424757.2:p.Met1141Thr
ENST00000638824.1:n.1550T>C
ENST00000439128.6:c.3338T>C	ENSP00000408020.2:p.Met1113Thr
ENST00000507142.5:c.3422T>C	ENSP00000424757.1:p.Met1141Thr
ENST00000510533.5:c.3206T>C	ENSP00000427653.1:p.Met1069Thr
ENST00000511633.5:c.3290T>C	ENSP00000423332.1:p.Met1097Thr
ENST00000512193.5:c.3131T>C	ENSP00000424938.1:p.Met1044Thr
NM_001199397.1:c.3422T>C	NP_001186326.1:p.Met1141Thr
NM_001199398.1:c.3290T>C	NP_001186327.1:p.Met1097Thr
NM_001199399.1:c.3131T>C	NP_001186328.1:p.Met1044Thr
NM_001199400.1:c.3206T>C	NP_001186329.1:p.Met1069Thr
NM_012224.2:c.3338T>C	NP_036356.1:p.Met1113Thr
XM_006714228.1:c.3245T>C	XP_006714291.1:p.Met1082Thr
XM_011532003.1:c.3338T>C	XP_011530305.1:p.Met1113Thr
XM_011532004.1:c.3206T>C	XP_011530306.1:p.Met1069Thr
XM_017008249.1:c.2801T>C	XP_016863738.1:p.Met934Thr
XM_017008251.1:c.2717T>C	XP_016863740.1:p.Met906Thr
XM_017008252.2:c.2717T>C	XP_016863741.1:p.Met906Thr
XM_017008253.1:c.2270T>C	XP_016863742.1:p.Met757Thr
XM_017008254.1:c.2066T>C	XP_016863743.1:p.Met689Thr
XM_024454065.1:c.2801T>C	XP_024309833.1:p.Met934Thr
XR_001741233.1:n.3707T>C
NM_001199397.3:c.3422T>C MANE Select	NP_001186326.1:p.Met1141Thr
NM_001199398.2:c.3290T>C	NP_001186327.1:p.Met1097Thr
NM_001199399.2:c.3131T>C	NP_001186328.1:p.Met1044Thr
NM_001199400.2:c.3206T>C	NP_001186329.1:p.Met1069Thr
NM_001374418.1:c.3422T>C	NP_001361347.1:p.Met1141Thr
NM_001374419.1:c.3338T>C	NP_001361348.1:p.Met1113Thr
NM_001374420.1:c.3287T>C	NP_001361349.1:p.Met1096Thr
NM_001374421.1:c.2939T>C	NP_001361350.1:p.Met980Thr
NM_012224.3:c.3338T>C	NP_036356.1:p.Met1113Thr
NR_164630.1:n.3884T>C
NM_001199398.3:c.3290T>C	NP_001186327.1:p.Met1097Thr
NM_001199399.3:c.3131T>C	NP_001186328.1:p.Met1044Thr
NM_001199400.3:c.3206T>C	NP_001186329.1:p.Met1069Thr
NM_012224.4:c.3338T>C	NP_036356.1:p.Met1113Thr