Canonical Allele Identifier: CA3137231

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169424640A>G , CM000666.2:g.169424640A>G	GRCh38
NC_000004.11:g.170345791A>G , CM000666.1:g.170345791A>G	GRCh37
NC_000004.10:g.170582366A>G	NCBI36
NG_027982.1:g.192988T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001199397.3:c.3135T>C MANE Select	NP_001186326.1:p.Ser1045=
ENST00000507142.6:c.3135T>C MANE Select	ENSP00000424757.2:p.Ser1045=
NM_001199397.1:c.3135T>C	NP_001186326.1:p.Ser1045=
NM_001199398.1:c.3003T>C	NP_001186327.1:p.Ser1001=
NM_001199398.2:c.3003T>C	NP_001186327.1:p.Ser1001=
NM_001199398.3:c.3003T>C	NP_001186327.1:p.Ser1001=
NM_001199399.1:c.2844T>C	NP_001186328.1:p.Ser948=
NM_001199399.2:c.2844T>C	NP_001186328.1:p.Ser948=
NM_001199399.3:c.2844T>C	NP_001186328.1:p.Ser948=
NM_001199400.1:c.2919T>C	NP_001186329.1:p.Ser973=
NM_001199400.2:c.2919T>C	NP_001186329.1:p.Ser973=
NM_001199400.3:c.2919T>C	NP_001186329.1:p.Ser973=
NM_001374418.1:c.3135T>C	NP_001361347.1:p.Ser1045=
NM_001374419.1:c.3051T>C	NP_001361348.1:p.Ser1017=
NM_001374420.1:c.3000T>C	NP_001361349.1:p.Ser1000=
NM_001374421.1:c.2652T>C	NP_001361350.1:p.Ser884=
NM_012224.2:c.3051T>C	NP_036356.1:p.Ser1017=
NM_012224.3:c.3051T>C	NP_036356.1:p.Ser1017=
NM_012224.4:c.3051T>C	NP_036356.1:p.Ser1017=
NR_164630.1:n.3597T>C
ENST00000439128.6:c.3051T>C	ENSP00000408020.2:p.Ser1017=
ENST00000507142.5:c.3135T>C	ENSP00000424757.1:p.Ser1045=
ENST00000510533.5:c.2919T>C	ENSP00000427653.1:p.Ser973=
ENST00000511633.5:c.3003T>C	ENSP00000423332.1:p.Ser1001=
ENST00000512193.5:c.2844T>C	ENSP00000424938.1:p.Ser948=
ENST00000638824.1:n.1263T>C
ENST00000685111.1:c.2967T>C	ENSP00000508844.1:p.Ser989=
ENST00000685677.1:n.2433T>C
ENST00000686697.1:c.2652T>C	ENSP00000508689.1:p.Ser884=
ENST00000687054.1:n.3629T>C
ENST00000687528.1:c.*1870T>C	ENSP00000510228.1:n.*1870T>C
ENST00000687643.1:c.3078T>C	ENSP00000509309.1:p.Ser1026=
ENST00000688934.1:c.1158T>C	ENSP00000510760.1:p.Ser386=
ENST00000690540.1:n.2585T>C
XM_006714228.1:c.2958T>C	XP_006714291.1:p.Ser986=
XM_011532003.1:c.3051T>C	XP_011530305.1:p.Ser1017=
XM_011532004.1:c.2919T>C	XP_011530306.1:p.Ser973=
XM_017008249.1:c.2514T>C	XP_016863738.1:p.Ser838=
XM_017008251.1:c.2430T>C	XP_016863740.1:p.Ser810=
XM_017008252.2:c.2430T>C	XP_016863741.1:p.Ser810=
XM_017008253.1:c.1983T>C	XP_016863742.1:p.Ser661=
XM_017008254.1:c.1779T>C	XP_016863743.1:p.Ser593=
XM_024454065.1:c.2514T>C	XP_024309833.1:p.Ser838=
XR_001741233.1:n.3420T>C