Canonical Allele Identifier: CA358799655

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169400242T>G , CM000666.2:g.169400242T>G	GRCh38
NC_000004.11:g.170321393T>G , CM000666.1:g.170321393T>G	GRCh37
NC_000004.10:g.170557968T>G	NCBI36
NG_027982.1:g.217386A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001199397.3:c.3830A>C MANE Select	NP_001186326.1:p.Asp1277Ala
ENST00000507142.6:c.3830A>C MANE Select	ENSP00000424757.2:p.Asp1277Ala
NM_001199397.1:c.3830A>C	NP_001186326.1:p.Asp1277Ala
NM_001199398.1:c.3698A>C	NP_001186327.1:p.Asp1233Ala
NM_001199398.2:c.3698A>C	NP_001186327.1:p.Asp1233Ala
NM_001199398.3:c.3698A>C	NP_001186327.1:p.Asp1233Ala
NM_001199399.1:c.3539A>C	NP_001186328.1:p.Asp1180Ala
NM_001199399.2:c.3539A>C	NP_001186328.1:p.Asp1180Ala
NM_001199399.3:c.3539A>C	NP_001186328.1:p.Asp1180Ala
NM_001199400.1:c.3614A>C	NP_001186329.1:p.Asp1205Ala
NM_001199400.2:c.3614A>C	NP_001186329.1:p.Asp1205Ala
NM_001199400.3:c.3614A>C	NP_001186329.1:p.Asp1205Ala
NM_001374418.1:c.3830A>C	NP_001361347.1:p.Asp1277Ala
NM_001374419.1:c.3746A>C	NP_001361348.1:p.Asp1249Ala
NM_001374420.1:c.3695A>C	NP_001361349.1:p.Asp1232Ala
NM_001374421.1:c.3347A>C	NP_001361350.1:p.Asp1116Ala
NM_012224.2:c.3746A>C	NP_036356.1:p.Asp1249Ala
NM_012224.3:c.3746A>C	NP_036356.1:p.Asp1249Ala
NM_012224.4:c.3746A>C	NP_036356.1:p.Asp1249Ala
NR_164630.1:n.4292A>C
ENST00000439128.6:c.3746A>C	ENSP00000408020.2:p.Asp1249Ala
ENST00000507142.5:c.3830A>C	ENSP00000424757.1:p.Asp1277Ala
ENST00000510533.5:c.3614A>C	ENSP00000427653.1:p.Asp1205Ala
ENST00000511633.5:c.3698A>C	ENSP00000423332.1:p.Asp1233Ala
ENST00000512193.5:c.3539A>C	ENSP00000424938.1:p.Asp1180Ala
ENST00000638824.1:n.1958A>C
ENST00000685111.1:c.3662A>C	ENSP00000508844.1:p.Asp1221Ala
ENST00000685677.1:n.3128A>C
ENST00000686697.1:c.3347A>C	ENSP00000508689.1:p.Asp1116Ala
ENST00000687054.1:n.4324A>C
ENST00000687528.1:c.*2565A>C	ENSP00000510228.1:n.*2565A>C
ENST00000687643.1:c.3773A>C	ENSP00000509309.1:p.Asp1258Ala
ENST00000688934.1:c.1853A>C	ENSP00000510760.1:p.Asp618Ala
ENST00000690540.1:n.3280A>C
XM_006714228.1:c.3653A>C	XP_006714291.1:p.Asp1218Ala
XM_011532003.1:c.3746A>C	XP_011530305.1:p.Asp1249Ala
XM_011532004.1:c.3614A>C	XP_011530306.1:p.Asp1205Ala
XM_017008249.1:c.3209A>C	XP_016863738.1:p.Asp1070Ala
XM_017008251.1:c.3125A>C	XP_016863740.1:p.Asp1042Ala
XM_017008252.2:c.3125A>C	XP_016863741.1:p.Asp1042Ala
XM_017008253.1:c.2678A>C	XP_016863742.1:p.Asp893Ala
XM_017008254.1:c.2474A>C	XP_016863743.1:p.Asp825Ala
XM_024454065.1:c.3209A>C	XP_024309833.1:p.Asp1070Ala
XR_001741233.1:n.4115A>C