Canonical Allele Identifier: CA3137510
Community Standard Title: NM_001199397.3(NEK1):c.2136C>T (p.Gly712=)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169479406G>A , CM000666.2:g.169479406G>A GRCh38
NC_000004.11:g.170400557G>A , CM000666.1:g.170400557G>A GRCh37
NC_000004.10:g.170637132G>A NCBI36
NG_027982.1:g.138222C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.2136C>T MANE Select NP_001186326.1:p.Gly712=
ENST00000507142.6:c.2136C>T MANE Select ENSP00000424757.2:p.Gly712=
NM_001199397.1:c.2136C>T NP_001186326.1:p.Gly712=
NM_001199398.1:c.2004C>T NP_001186327.1:p.Gly668=
NM_001199398.2:c.2004C>T NP_001186327.1:p.Gly668=
NM_001199398.3:c.2004C>T NP_001186327.1:p.Gly668=
NM_001199399.1:c.1845C>T NP_001186328.1:p.Gly615=
NM_001199399.2:c.1845C>T NP_001186328.1:p.Gly615=
NM_001199399.3:c.1845C>T NP_001186328.1:p.Gly615=
NM_001199400.1:c.1920C>T NP_001186329.1:p.Gly640=
NM_001199400.2:c.1920C>T NP_001186329.1:p.Gly640=
NM_001199400.3:c.1920C>T NP_001186329.1:p.Gly640=
NM_001374418.1:c.2136C>T NP_001361347.1:p.Gly712=
NM_001374419.1:c.2052C>T NP_001361348.1:p.Gly684=
NM_001374420.1:c.2001C>T NP_001361349.1:p.Gly667=
NM_001374421.1:c.1830C>T NP_001361350.1:p.Gly610=
NM_012224.2:c.2052C>T NP_036356.1:p.Gly684=
NM_012224.3:c.2052C>T NP_036356.1:p.Gly684=
NM_012224.4:c.2052C>T NP_036356.1:p.Gly684=
NR_164630.1:n.2598C>T
ENST00000439128.6:c.2052C>T ENSP00000408020.2:p.Gly684=
ENST00000507142.5:c.2136C>T ENSP00000424757.1:p.Gly712=
ENST00000510533.5:c.1920C>T ENSP00000427653.1:p.Gly640=
ENST00000511633.5:c.2004C>T ENSP00000423332.1:p.Gly668=
ENST00000512193.5:c.1845C>T ENSP00000424938.1:p.Gly615=
ENST00000638824.1:n.236C>T
ENST00000685111.1:c.1968C>T ENSP00000508844.1:p.Gly656=
ENST00000685677.1:n.1434C>T
ENST00000686697.1:c.1830C>T ENSP00000508689.1:p.Gly610=
ENST00000687054.1:n.2630C>T
ENST00000687219.1:c.*1639C>T ENSP00000509736.1:n.*1639C>T
ENST00000687528.1:c.2004C>T ENSP00000510228.1:p.Gly668=
ENST00000687643.1:c.2079C>T ENSP00000509309.1:p.Gly693=
ENST00000688934.1:c.159C>T ENSP00000510760.1:p.Gly53=
ENST00000689190.1:n.2022C>T
ENST00000692450.1:c.*1801C>T ENSP00000510283.1:n.*1801C>T
ENST00000693085.1:c.*1879C>T ENSP00000508746.1:n.*1879C>T
ENST00000693604.1:c.*1070C>T ENSP00000509917.1:n.*1070C>T
XM_006714228.1:c.2136C>T XP_006714291.1:p.Gly712=
XM_011532003.1:c.2052C>T XP_011530305.1:p.Gly684=
XM_011532004.1:c.1920C>T XP_011530306.1:p.Gly640=
XM_011532005.1:c.2136C>T XP_011530307.1:p.Gly712=
XM_011532005.2:c.2136C>T XP_011530307.1:p.Gly712=
XM_017008249.1:c.1515C>T XP_016863738.1:p.Gly505=
XM_017008251.1:c.1431C>T XP_016863740.1:p.Gly477=
XM_017008252.2:c.1431C>T XP_016863741.1:p.Gly477=
XM_017008253.1:c.984C>T XP_016863742.1:p.Gly328=
XM_017008254.1:c.780C>T XP_016863743.1:p.Gly260=
XM_024454065.1:c.1515C>T XP_024309833.1:p.Gly505=
XR_001741233.1:n.2716C>T
XR_001741234.2:n.2529C>T