Canonical Allele Identifier: CA442293167

Gene: NEK1

Linked Data

• gnomAD v4: 4-169508323-C-T
• MyVariant Identifiers: chr4:g.170429474C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169508323C>T , CM000666.2:g.169508323C>T	GRCh38
NC_000004.11:g.170429474C>T , CM000666.1:g.170429474C>T	GRCh37
NC_000004.10:g.170666049C>T	NCBI36
NG_027982.1:g.109305G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.1590G>A	ENSP00000508844.1:p.Leu530=
ENST00000685677.1:n.1056G>A
ENST00000686697.1:c.1548G>A	ENSP00000508689.1:p.Leu516=
ENST00000687054.1:n.2252G>A
ENST00000687219.1:c.*1261G>A	ENSP00000509736.1:n.*1261G>A
ENST00000687528.1:c.1626G>A	ENSP00000510228.1:p.Leu542=
ENST00000687643.1:c.1701G>A	ENSP00000509309.1:p.Leu567=
ENST00000688934.1:c.-124G>A	ENSP00000510760.1:n.-124G>A
ENST00000689190.1:n.1644G>A
ENST00000692450.1:c.*1423G>A	ENSP00000510283.1:n.*1423G>A
ENST00000693085.1:c.*1501G>A	ENSP00000508746.1:n.*1501G>A
ENST00000693604.1:c.*692G>A	ENSP00000509917.1:n.*692G>A
ENST00000507142.6:c.1758G>A MANE Select	ENSP00000424757.2:p.Leu586=
ENST00000439128.6:c.1674G>A	ENSP00000408020.2:p.Leu558=
ENST00000507142.5:c.1758G>A	ENSP00000424757.1:p.Leu586=
ENST00000510533.5:c.1542G>A	ENSP00000427653.1:p.Leu514=
ENST00000511633.5:c.1626G>A	ENSP00000423332.1:p.Leu542=
ENST00000512193.5:c.1467G>A	ENSP00000424938.1:p.Leu489=
NM_001199397.1:c.1758G>A	NP_001186326.1:p.Leu586=
NM_001199398.1:c.1626G>A	NP_001186327.1:p.Leu542=
NM_001199399.1:c.1467G>A	NP_001186328.1:p.Leu489=
NM_001199400.1:c.1542G>A	NP_001186329.1:p.Leu514=
NM_012224.2:c.1674G>A	NP_036356.1:p.Leu558=
XM_006714228.1:c.1758G>A	XP_006714291.1:p.Leu586=
XM_011532003.1:c.1674G>A	XP_011530305.1:p.Leu558=
XM_011532004.1:c.1542G>A	XP_011530306.1:p.Leu514=
XM_011532005.1:c.1758G>A	XP_011530307.1:p.Leu586=
XM_011532005.2:c.1758G>A	XP_011530307.1:p.Leu586=
XM_017008249.1:c.1137G>A	XP_016863738.1:p.Leu379=
XM_017008251.1:c.1053G>A	XP_016863740.1:p.Leu351=
XM_017008252.2:c.1053G>A	XP_016863741.1:p.Leu351=
XM_017008253.1:c.606G>A	XP_016863742.1:p.Leu202=
XM_017008254.1:c.402G>A	XP_016863743.1:p.Leu134=
XM_024454065.1:c.1137G>A	XP_024309833.1:p.Leu379=
XR_001741233.1:n.2338G>A
XR_001741234.2:n.2151G>A
NM_001199397.3:c.1758G>A MANE Select	NP_001186326.1:p.Leu586=
NM_001199398.2:c.1626G>A	NP_001186327.1:p.Leu542=
NM_001199399.2:c.1467G>A	NP_001186328.1:p.Leu489=
NM_001199400.2:c.1542G>A	NP_001186329.1:p.Leu514=
NM_001374418.1:c.1758G>A	NP_001361347.1:p.Leu586=
NM_001374419.1:c.1674G>A	NP_001361348.1:p.Leu558=
NM_001374420.1:c.1623G>A	NP_001361349.1:p.Leu541=
NM_001374421.1:c.1548G>A	NP_001361350.1:p.Leu516=
NM_012224.3:c.1674G>A	NP_036356.1:p.Leu558=
NR_164630.1:n.2220G>A
NM_001199398.3:c.1626G>A	NP_001186327.1:p.Leu542=
NM_001199399.3:c.1467G>A	NP_001186328.1:p.Leu489=
NM_001199400.3:c.1542G>A	NP_001186329.1:p.Leu514=
NM_012224.4:c.1674G>A	NP_036356.1:p.Leu558=