Canonical Allele Identifier: CA358731785

Gene: NEK1

Linked Data

• MyVariant Identifiers: chr4:g.170429466A>T (hg19) ; chr4:g.169508315A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169508315A>T , CM000666.2:g.169508315A>T	GRCh38
NC_000004.11:g.170429466A>T , CM000666.1:g.170429466A>T	GRCh37
NC_000004.10:g.170666041A>T	NCBI36
NG_027982.1:g.109313T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.1598T>A	ENSP00000508844.1:p.Leu533Gln
ENST00000685677.1:n.1064T>A
ENST00000686697.1:c.1556T>A	ENSP00000508689.1:p.Leu519Gln
ENST00000687054.1:n.2260T>A
ENST00000687219.1:c.*1269T>A	ENSP00000509736.1:n.*1269T>A
ENST00000687528.1:c.1634T>A	ENSP00000510228.1:p.Leu545Gln
ENST00000687643.1:c.1709T>A	ENSP00000509309.1:p.Leu570Gln
ENST00000688934.1:c.-116T>A	ENSP00000510760.1:n.-116T>A
ENST00000689190.1:n.1652T>A
ENST00000692450.1:c.*1431T>A	ENSP00000510283.1:n.*1431T>A
ENST00000693085.1:c.*1509T>A	ENSP00000508746.1:n.*1509T>A
ENST00000693604.1:c.*700T>A	ENSP00000509917.1:n.*700T>A
ENST00000507142.6:c.1766T>A MANE Select	ENSP00000424757.2:p.Leu589Gln
ENST00000439128.6:c.1682T>A	ENSP00000408020.2:p.Leu561Gln
ENST00000507142.5:c.1766T>A	ENSP00000424757.1:p.Leu589Gln
ENST00000510533.5:c.1550T>A	ENSP00000427653.1:p.Leu517Gln
ENST00000511633.5:c.1634T>A	ENSP00000423332.1:p.Leu545Gln
ENST00000512193.5:c.1475T>A	ENSP00000424938.1:p.Leu492Gln
NM_001199397.1:c.1766T>A	NP_001186326.1:p.Leu589Gln
NM_001199398.1:c.1634T>A	NP_001186327.1:p.Leu545Gln
NM_001199399.1:c.1475T>A	NP_001186328.1:p.Leu492Gln
NM_001199400.1:c.1550T>A	NP_001186329.1:p.Leu517Gln
NM_012224.2:c.1682T>A	NP_036356.1:p.Leu561Gln
XM_006714228.1:c.1766T>A	XP_006714291.1:p.Leu589Gln
XM_011532003.1:c.1682T>A	XP_011530305.1:p.Leu561Gln
XM_011532004.1:c.1550T>A	XP_011530306.1:p.Leu517Gln
XM_011532005.1:c.1766T>A	XP_011530307.1:p.Leu589Gln
XM_011532005.2:c.1766T>A	XP_011530307.1:p.Leu589Gln
XM_017008249.1:c.1145T>A	XP_016863738.1:p.Leu382Gln
XM_017008251.1:c.1061T>A	XP_016863740.1:p.Leu354Gln
XM_017008252.2:c.1061T>A	XP_016863741.1:p.Leu354Gln
XM_017008253.1:c.614T>A	XP_016863742.1:p.Leu205Gln
XM_017008254.1:c.410T>A	XP_016863743.1:p.Leu137Gln
XM_024454065.1:c.1145T>A	XP_024309833.1:p.Leu382Gln
XR_001741233.1:n.2346T>A
XR_001741234.2:n.2159T>A
NM_001199397.3:c.1766T>A MANE Select	NP_001186326.1:p.Leu589Gln
NM_001199398.2:c.1634T>A	NP_001186327.1:p.Leu545Gln
NM_001199399.2:c.1475T>A	NP_001186328.1:p.Leu492Gln
NM_001199400.2:c.1550T>A	NP_001186329.1:p.Leu517Gln
NM_001374418.1:c.1766T>A	NP_001361347.1:p.Leu589Gln
NM_001374419.1:c.1682T>A	NP_001361348.1:p.Leu561Gln
NM_001374420.1:c.1631T>A	NP_001361349.1:p.Leu544Gln
NM_001374421.1:c.1556T>A	NP_001361350.1:p.Leu519Gln
NM_012224.3:c.1682T>A	NP_036356.1:p.Leu561Gln
NR_164630.1:n.2228T>A
NM_001199398.3:c.1634T>A	NP_001186327.1:p.Leu545Gln
NM_001199399.3:c.1475T>A	NP_001186328.1:p.Leu492Gln
NM_001199400.3:c.1550T>A	NP_001186329.1:p.Leu517Gln
NM_012224.4:c.1682T>A	NP_036356.1:p.Leu561Gln