Canonical Allele Identifier: CA3137118

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169400623T>C , CM000666.2:g.169400623T>C	GRCh38
NC_000004.11:g.170321774T>C , CM000666.1:g.170321774T>C	GRCh37
NC_000004.10:g.170558349T>C	NCBI36
NG_027982.1:g.217005A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001199397.3:c.3612A>G MANE Select	NP_001186326.1:p.Glu1204=
ENST00000507142.6:c.3612A>G MANE Select	ENSP00000424757.2:p.Glu1204=
NM_001199397.1:c.3612A>G	NP_001186326.1:p.Glu1204=
NM_001199398.1:c.3480A>G	NP_001186327.1:p.Glu1160=
NM_001199398.2:c.3480A>G	NP_001186327.1:p.Glu1160=
NM_001199398.3:c.3480A>G	NP_001186327.1:p.Glu1160=
NM_001199399.1:c.3321A>G	NP_001186328.1:p.Glu1107=
NM_001199399.2:c.3321A>G	NP_001186328.1:p.Glu1107=
NM_001199399.3:c.3321A>G	NP_001186328.1:p.Glu1107=
NM_001199400.1:c.3396A>G	NP_001186329.1:p.Glu1132=
NM_001199400.2:c.3396A>G	NP_001186329.1:p.Glu1132=
NM_001199400.3:c.3396A>G	NP_001186329.1:p.Glu1132=
NM_001374418.1:c.3612A>G	NP_001361347.1:p.Glu1204=
NM_001374419.1:c.3528A>G	NP_001361348.1:p.Glu1176=
NM_001374420.1:c.3477A>G	NP_001361349.1:p.Glu1159=
NM_001374421.1:c.3129A>G	NP_001361350.1:p.Glu1043=
NM_012224.2:c.3528A>G	NP_036356.1:p.Glu1176=
NM_012224.3:c.3528A>G	NP_036356.1:p.Glu1176=
NM_012224.4:c.3528A>G	NP_036356.1:p.Glu1176=
NR_164630.1:n.4074A>G
ENST00000439128.6:c.3528A>G	ENSP00000408020.2:p.Glu1176=
ENST00000507142.5:c.3612A>G	ENSP00000424757.1:p.Glu1204=
ENST00000510533.5:c.3396A>G	ENSP00000427653.1:p.Glu1132=
ENST00000511633.5:c.3480A>G	ENSP00000423332.1:p.Glu1160=
ENST00000512193.5:c.3321A>G	ENSP00000424938.1:p.Glu1107=
ENST00000638824.1:n.1740A>G
ENST00000685111.1:c.3444A>G	ENSP00000508844.1:p.Glu1148=
ENST00000685677.1:n.2910A>G
ENST00000686697.1:c.3129A>G	ENSP00000508689.1:p.Glu1043=
ENST00000687054.1:n.4106A>G
ENST00000687528.1:c.*2347A>G	ENSP00000510228.1:n.*2347A>G
ENST00000687643.1:c.3555A>G	ENSP00000509309.1:p.Glu1185=
ENST00000688934.1:c.1635A>G	ENSP00000510760.1:p.Glu545=
ENST00000690540.1:n.3062A>G
XM_006714228.1:c.3435A>G	XP_006714291.1:p.Glu1145=
XM_011532003.1:c.3528A>G	XP_011530305.1:p.Glu1176=
XM_011532004.1:c.3396A>G	XP_011530306.1:p.Glu1132=
XM_017008249.1:c.2991A>G	XP_016863738.1:p.Glu997=
XM_017008251.1:c.2907A>G	XP_016863740.1:p.Glu969=
XM_017008252.2:c.2907A>G	XP_016863741.1:p.Glu969=
XM_017008253.1:c.2460A>G	XP_016863742.1:p.Glu820=
XM_017008254.1:c.2256A>G	XP_016863743.1:p.Glu752=
XM_024454065.1:c.2991A>G	XP_024309833.1:p.Glu997=
XR_001741233.1:n.3897A>G