Canonical Allele Identifier: CA3137748
Community Standard Title: NM_001199397.3(NEK1):c.1427A>G (p.Glu476Gly)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169555935T>C , CM000666.2:g.169555935T>C GRCh38
NC_000004.11:g.170477086T>C , CM000666.1:g.170477086T>C GRCh37
NC_000004.10:g.170713661T>C NCBI36
NG_027982.1:g.61693A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.1427A>G MANE Select NP_001186326.1:p.Glu476Gly
ENST00000507142.6:c.1427A>G MANE Select ENSP00000424757.2:p.Glu476Gly
NM_001199397.1:c.1427A>G NP_001186326.1:p.Glu476Gly
NM_001199398.1:c.1427A>G NP_001186327.1:p.Glu476Gly
NM_001199398.2:c.1427A>G NP_001186327.1:p.Glu476Gly
NM_001199398.3:c.1427A>G NP_001186327.1:p.Glu476Gly
NM_001199399.1:c.1352A>G NP_001186328.1:p.Glu451Gly
NM_001199399.2:c.1352A>G NP_001186328.1:p.Glu451Gly
NM_001199399.3:c.1352A>G NP_001186328.1:p.Glu451Gly
NM_001199400.1:c.1427A>G NP_001186329.1:p.Glu476Gly
NM_001199400.2:c.1427A>G NP_001186329.1:p.Glu476Gly
NM_001199400.3:c.1427A>G NP_001186329.1:p.Glu476Gly
NM_001374418.1:c.1427A>G NP_001361347.1:p.Glu476Gly
NM_001374419.1:c.1427A>G NP_001361348.1:p.Glu476Gly
NM_001374420.1:c.1376A>G NP_001361349.1:p.Glu459Gly
NM_001374421.1:c.1301A>G NP_001361350.1:p.Glu434Gly
NM_012224.2:c.1427A>G NP_036356.1:p.Glu476Gly
NM_012224.3:c.1427A>G NP_036356.1:p.Glu476Gly
NM_012224.4:c.1427A>G NP_036356.1:p.Glu476Gly
NR_164630.1:n.1941A>G
ENST00000439128.6:c.1427A>G ENSP00000408020.2:p.Glu476Gly
ENST00000507142.5:c.1427A>G ENSP00000424757.1:p.Glu476Gly
ENST00000509912.5:n.1159A>G
ENST00000510533.5:c.1427A>G ENSP00000427653.1:p.Glu476Gly
ENST00000511633.5:c.1427A>G ENSP00000423332.1:p.Glu476Gly
ENST00000512193.5:c.1352A>G ENSP00000424938.1:p.Glu451Gly
ENST00000685111.1:c.1343A>G ENSP00000508844.1:p.Glu448Gly
ENST00000685677.1:n.725A>G
ENST00000686697.1:c.1301A>G ENSP00000508689.1:p.Glu434Gly
ENST00000687054.1:n.2005A>G
ENST00000687219.1:c.*1014A>G ENSP00000509736.1:n.*1014A>G
ENST00000687528.1:c.1427A>G ENSP00000510228.1:p.Glu476Gly
ENST00000687643.1:c.1454A>G ENSP00000509309.1:p.Glu485Gly
ENST00000688487.1:n.1790A>G
ENST00000688934.1:c.-132-47604A>G ENSP00000510760.1:n.-132-47604A>G
ENST00000690631.1:n.2004A>G
ENST00000692450.1:c.*1224A>G ENSP00000510283.1:n.*1224A>G
ENST00000693085.1:c.*1254A>G ENSP00000508746.1:n.*1254A>G
ENST00000693604.1:c.*445A>G ENSP00000509917.1:n.*445A>G
XM_006714228.1:c.1427A>G XP_006714291.1:p.Glu476Gly
XM_011532003.1:c.1427A>G XP_011530305.1:p.Glu476Gly
XM_011532004.1:c.1427A>G XP_011530306.1:p.Glu476Gly
XM_011532005.1:c.1427A>G XP_011530307.1:p.Glu476Gly
XM_011532005.2:c.1427A>G XP_011530307.1:p.Glu476Gly
XM_017008249.1:c.806A>G XP_016863738.1:p.Glu269Gly
XM_017008251.1:c.806A>G XP_016863740.1:p.Glu269Gly
XM_017008252.2:c.806A>G XP_016863741.1:p.Glu269Gly
XM_017008253.1:c.275A>G XP_016863742.1:p.Glu92Gly
XM_017008254.1:c.71A>G XP_016863743.1:p.Glu24Gly
XM_024454065.1:c.806A>G XP_024309833.1:p.Glu269Gly
XR_001741233.1:n.2007A>G
XR_001741234.2:n.1952A>G