Canonical Allele Identifier: CA442071091

Gene: NEK1

Linked Data

• MyVariant Identifiers: chr4:g.170429468T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169508317T>C , CM000666.2:g.169508317T>C	GRCh38
NC_000004.11:g.170429468T>C , CM000666.1:g.170429468T>C	GRCh37
NC_000004.10:g.170666043T>C	NCBI36
NG_027982.1:g.109311A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.1596A>G	ENSP00000508844.1:p.Arg532=
ENST00000685677.1:n.1062A>G
ENST00000686697.1:c.1554A>G	ENSP00000508689.1:p.Arg518=
ENST00000687054.1:n.2258A>G
ENST00000687219.1:c.*1267A>G	ENSP00000509736.1:n.*1267A>G
ENST00000687528.1:c.1632A>G	ENSP00000510228.1:p.Arg544=
ENST00000687643.1:c.1707A>G	ENSP00000509309.1:p.Arg569=
ENST00000688934.1:c.-118A>G	ENSP00000510760.1:n.-118A>G
ENST00000689190.1:n.1650A>G
ENST00000692450.1:c.*1429A>G	ENSP00000510283.1:n.*1429A>G
ENST00000693085.1:c.*1507A>G	ENSP00000508746.1:n.*1507A>G
ENST00000693604.1:c.*698A>G	ENSP00000509917.1:n.*698A>G
ENST00000507142.6:c.1764A>G MANE Select	ENSP00000424757.2:p.Arg588=
ENST00000439128.6:c.1680A>G	ENSP00000408020.2:p.Arg560=
ENST00000507142.5:c.1764A>G	ENSP00000424757.1:p.Arg588=
ENST00000510533.5:c.1548A>G	ENSP00000427653.1:p.Arg516=
ENST00000511633.5:c.1632A>G	ENSP00000423332.1:p.Arg544=
ENST00000512193.5:c.1473A>G	ENSP00000424938.1:p.Arg491=
NM_001199397.1:c.1764A>G	NP_001186326.1:p.Arg588=
NM_001199398.1:c.1632A>G	NP_001186327.1:p.Arg544=
NM_001199399.1:c.1473A>G	NP_001186328.1:p.Arg491=
NM_001199400.1:c.1548A>G	NP_001186329.1:p.Arg516=
NM_012224.2:c.1680A>G	NP_036356.1:p.Arg560=
XM_006714228.1:c.1764A>G	XP_006714291.1:p.Arg588=
XM_011532003.1:c.1680A>G	XP_011530305.1:p.Arg560=
XM_011532004.1:c.1548A>G	XP_011530306.1:p.Arg516=
XM_011532005.1:c.1764A>G	XP_011530307.1:p.Arg588=
XM_011532005.2:c.1764A>G	XP_011530307.1:p.Arg588=
XM_017008249.1:c.1143A>G	XP_016863738.1:p.Arg381=
XM_017008251.1:c.1059A>G	XP_016863740.1:p.Arg353=
XM_017008252.2:c.1059A>G	XP_016863741.1:p.Arg353=
XM_017008253.1:c.612A>G	XP_016863742.1:p.Arg204=
XM_017008254.1:c.408A>G	XP_016863743.1:p.Arg136=
XM_024454065.1:c.1143A>G	XP_024309833.1:p.Arg381=
XR_001741233.1:n.2344A>G
XR_001741234.2:n.2157A>G
NM_001199397.3:c.1764A>G MANE Select	NP_001186326.1:p.Arg588=
NM_001199398.2:c.1632A>G	NP_001186327.1:p.Arg544=
NM_001199399.2:c.1473A>G	NP_001186328.1:p.Arg491=
NM_001199400.2:c.1548A>G	NP_001186329.1:p.Arg516=
NM_001374418.1:c.1764A>G	NP_001361347.1:p.Arg588=
NM_001374419.1:c.1680A>G	NP_001361348.1:p.Arg560=
NM_001374420.1:c.1629A>G	NP_001361349.1:p.Arg543=
NM_001374421.1:c.1554A>G	NP_001361350.1:p.Arg518=
NM_012224.3:c.1680A>G	NP_036356.1:p.Arg560=
NR_164630.1:n.2226A>G
NM_001199398.3:c.1632A>G	NP_001186327.1:p.Arg544=
NM_001199399.3:c.1473A>G	NP_001186328.1:p.Arg491=
NM_001199400.3:c.1548A>G	NP_001186329.1:p.Arg516=
NM_012224.4:c.1680A>G	NP_036356.1:p.Arg560=