Canonical Allele Identifier: CA358800181
Community Standard Title: NM_001199397.3(NEK1):c.3616G>T (p.Glu1206Ter)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169400619C>A , CM000666.2:g.169400619C>A GRCh38
NC_000004.11:g.170321770C>A , CM000666.1:g.170321770C>A GRCh37
NC_000004.10:g.170558345C>A NCBI36
NG_027982.1:g.217009G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.3616G>T MANE Select NP_001186326.1:p.Glu1206Ter
ENST00000507142.6:c.3616G>T MANE Select ENSP00000424757.2:p.Glu1206Ter
NM_001199397.1:c.3616G>T NP_001186326.1:p.Glu1206Ter
NM_001199398.1:c.3484G>T NP_001186327.1:p.Glu1162Ter
NM_001199398.2:c.3484G>T NP_001186327.1:p.Glu1162Ter
NM_001199398.3:c.3484G>T NP_001186327.1:p.Glu1162Ter
NM_001199399.1:c.3325G>T NP_001186328.1:p.Glu1109Ter
NM_001199399.2:c.3325G>T NP_001186328.1:p.Glu1109Ter
NM_001199399.3:c.3325G>T NP_001186328.1:p.Glu1109Ter
NM_001199400.1:c.3400G>T NP_001186329.1:p.Glu1134Ter
NM_001199400.2:c.3400G>T NP_001186329.1:p.Glu1134Ter
NM_001199400.3:c.3400G>T NP_001186329.1:p.Glu1134Ter
NM_001374418.1:c.3616G>T NP_001361347.1:p.Glu1206Ter
NM_001374419.1:c.3532G>T NP_001361348.1:p.Glu1178Ter
NM_001374420.1:c.3481G>T NP_001361349.1:p.Glu1161Ter
NM_001374421.1:c.3133G>T NP_001361350.1:p.Glu1045Ter
NM_012224.2:c.3532G>T NP_036356.1:p.Glu1178Ter
NM_012224.3:c.3532G>T NP_036356.1:p.Glu1178Ter
NM_012224.4:c.3532G>T NP_036356.1:p.Glu1178Ter
NR_164630.1:n.4078G>T
ENST00000439128.6:c.3532G>T ENSP00000408020.2:p.Glu1178Ter
ENST00000507142.5:c.3616G>T ENSP00000424757.1:p.Glu1206Ter
ENST00000510533.5:c.3400G>T ENSP00000427653.1:p.Glu1134Ter
ENST00000511633.5:c.3484G>T ENSP00000423332.1:p.Glu1162Ter
ENST00000512193.5:c.3325G>T ENSP00000424938.1:p.Glu1109Ter
ENST00000638824.1:n.1744G>T
ENST00000685111.1:c.3448G>T ENSP00000508844.1:p.Glu1150Ter
ENST00000685677.1:n.2914G>T
ENST00000686697.1:c.3133G>T ENSP00000508689.1:p.Glu1045Ter
ENST00000687054.1:n.4110G>T
ENST00000687528.1:c.*2351G>T ENSP00000510228.1:n.*2351G>T
ENST00000687643.1:c.3559G>T ENSP00000509309.1:p.Glu1187Ter
ENST00000688934.1:c.1639G>T ENSP00000510760.1:p.Glu547Ter
ENST00000690540.1:n.3066G>T
XM_006714228.1:c.3439G>T XP_006714291.1:p.Glu1147Ter
XM_011532003.1:c.3532G>T XP_011530305.1:p.Glu1178Ter
XM_011532004.1:c.3400G>T XP_011530306.1:p.Glu1134Ter
XM_017008249.1:c.2995G>T XP_016863738.1:p.Glu999Ter
XM_017008251.1:c.2911G>T XP_016863740.1:p.Glu971Ter
XM_017008252.2:c.2911G>T XP_016863741.1:p.Glu971Ter
XM_017008253.1:c.2464G>T XP_016863742.1:p.Glu822Ter
XM_017008254.1:c.2260G>T XP_016863743.1:p.Glu754Ter
XM_024454065.1:c.2995G>T XP_024309833.1:p.Glu999Ter
XR_001741233.1:n.3901G>T