Canonical Allele Identifier: CA3137511

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169479432C>T , CM000666.2:g.169479432C>T	GRCh38
NC_000004.11:g.170400583C>T , CM000666.1:g.170400583C>T	GRCh37
NC_000004.10:g.170637158C>T	NCBI36
NG_027982.1:g.138196G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001199397.3:c.2110G>A MANE Select	NP_001186326.1:p.Val704Ile
ENST00000507142.6:c.2110G>A MANE Select	ENSP00000424757.2:p.Val704Ile
NM_001199397.1:c.2110G>A	NP_001186326.1:p.Val704Ile
NM_001199398.1:c.1978G>A	NP_001186327.1:p.Val660Ile
NM_001199398.2:c.1978G>A	NP_001186327.1:p.Val660Ile
NM_001199398.3:c.1978G>A	NP_001186327.1:p.Val660Ile
NM_001199399.1:c.1819G>A	NP_001186328.1:p.Val607Ile
NM_001199399.2:c.1819G>A	NP_001186328.1:p.Val607Ile
NM_001199399.3:c.1819G>A	NP_001186328.1:p.Val607Ile
NM_001199400.1:c.1894G>A	NP_001186329.1:p.Val632Ile
NM_001199400.2:c.1894G>A	NP_001186329.1:p.Val632Ile
NM_001199400.3:c.1894G>A	NP_001186329.1:p.Val632Ile
NM_001374418.1:c.2110G>A	NP_001361347.1:p.Val704Ile
NM_001374419.1:c.2026G>A	NP_001361348.1:p.Val676Ile
NM_001374420.1:c.1975G>A	NP_001361349.1:p.Val659Ile
NM_001374421.1:c.1804G>A	NP_001361350.1:p.Val602Ile
NM_012224.2:c.2026G>A	NP_036356.1:p.Val676Ile
NM_012224.3:c.2026G>A	NP_036356.1:p.Val676Ile
NM_012224.4:c.2026G>A	NP_036356.1:p.Val676Ile
NR_164630.1:n.2572G>A
ENST00000439128.6:c.2026G>A	ENSP00000408020.2:p.Val676Ile
ENST00000507142.5:c.2110G>A	ENSP00000424757.1:p.Val704Ile
ENST00000510533.5:c.1894G>A	ENSP00000427653.1:p.Val632Ile
ENST00000511633.5:c.1978G>A	ENSP00000423332.1:p.Val660Ile
ENST00000512193.5:c.1819G>A	ENSP00000424938.1:p.Val607Ile
ENST00000638824.1:n.210G>A
ENST00000685111.1:c.1942G>A	ENSP00000508844.1:p.Val648Ile
ENST00000685677.1:n.1408G>A
ENST00000686697.1:c.1804G>A	ENSP00000508689.1:p.Val602Ile
ENST00000687054.1:n.2604G>A
ENST00000687219.1:c.*1613G>A	ENSP00000509736.1:n.*1613G>A
ENST00000687528.1:c.1978G>A	ENSP00000510228.1:p.Val660Ile
ENST00000687643.1:c.2053G>A	ENSP00000509309.1:p.Val685Ile
ENST00000688934.1:c.133G>A	ENSP00000510760.1:p.Val45Ile
ENST00000689190.1:n.1996G>A
ENST00000692450.1:c.*1775G>A	ENSP00000510283.1:n.*1775G>A
ENST00000693085.1:c.*1853G>A	ENSP00000508746.1:n.*1853G>A
ENST00000693604.1:c.*1044G>A	ENSP00000509917.1:n.*1044G>A
XM_006714228.1:c.2110G>A	XP_006714291.1:p.Val704Ile
XM_011532003.1:c.2026G>A	XP_011530305.1:p.Val676Ile
XM_011532004.1:c.1894G>A	XP_011530306.1:p.Val632Ile
XM_011532005.1:c.2110G>A	XP_011530307.1:p.Val704Ile
XM_011532005.2:c.2110G>A	XP_011530307.1:p.Val704Ile
XM_017008249.1:c.1489G>A	XP_016863738.1:p.Val497Ile
XM_017008251.1:c.1405G>A	XP_016863740.1:p.Val469Ile
XM_017008252.2:c.1405G>A	XP_016863741.1:p.Val469Ile
XM_017008253.1:c.958G>A	XP_016863742.1:p.Val320Ile
XM_017008254.1:c.754G>A	XP_016863743.1:p.Val252Ile
XM_024454065.1:c.1489G>A	XP_024309833.1:p.Val497Ile
XR_001741233.1:n.2690G>A
XR_001741234.2:n.2503G>A