Canonical Allele Identifier: CA109927282
Community Standard Title: NM_001199397.3(NEK1):c.1360C>T (p.Gln454Ter)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169556002G>A , CM000666.2:g.169556002G>A GRCh38
NC_000004.11:g.170477153G>A , CM000666.1:g.170477153G>A GRCh37
NC_000004.10:g.170713728G>A NCBI36
NG_027982.1:g.61626C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.1360C>T MANE Select NP_001186326.1:p.Gln454Ter
ENST00000507142.6:c.1360C>T MANE Select ENSP00000424757.2:p.Gln454Ter
NM_001199397.1:c.1360C>T NP_001186326.1:p.Gln454Ter
NM_001199398.1:c.1360C>T NP_001186327.1:p.Gln454Ter
NM_001199398.2:c.1360C>T NP_001186327.1:p.Gln454Ter
NM_001199398.3:c.1360C>T NP_001186327.1:p.Gln454Ter
NM_001199399.1:c.1285C>T NP_001186328.1:p.Gln429Ter
NM_001199399.2:c.1285C>T NP_001186328.1:p.Gln429Ter
NM_001199399.3:c.1285C>T NP_001186328.1:p.Gln429Ter
NM_001199400.1:c.1360C>T NP_001186329.1:p.Gln454Ter
NM_001199400.2:c.1360C>T NP_001186329.1:p.Gln454Ter
NM_001199400.3:c.1360C>T NP_001186329.1:p.Gln454Ter
NM_001374418.1:c.1360C>T NP_001361347.1:p.Gln454Ter
NM_001374419.1:c.1360C>T NP_001361348.1:p.Gln454Ter
NM_001374420.1:c.1309C>T NP_001361349.1:p.Gln437Ter
NM_001374421.1:c.1234C>T NP_001361350.1:p.Gln412Ter
NM_012224.2:c.1360C>T NP_036356.1:p.Gln454Ter
NM_012224.3:c.1360C>T NP_036356.1:p.Gln454Ter
NM_012224.4:c.1360C>T NP_036356.1:p.Gln454Ter
NR_164630.1:n.1874C>T
ENST00000439128.6:c.1360C>T ENSP00000408020.2:p.Gln454Ter
ENST00000507142.5:c.1360C>T ENSP00000424757.1:p.Gln454Ter
ENST00000509912.5:n.1092C>T
ENST00000510533.5:c.1360C>T ENSP00000427653.1:p.Gln454Ter
ENST00000511633.5:c.1360C>T ENSP00000423332.1:p.Gln454Ter
ENST00000512193.5:c.1285C>T ENSP00000424938.1:p.Gln429Ter
ENST00000685111.1:c.1276C>T ENSP00000508844.1:p.Gln426Ter
ENST00000685677.1:n.658C>T
ENST00000686697.1:c.1234C>T ENSP00000508689.1:p.Gln412Ter
ENST00000687054.1:n.1938C>T
ENST00000687219.1:c.*947C>T ENSP00000509736.1:n.*947C>T
ENST00000687528.1:c.1360C>T ENSP00000510228.1:p.Gln454Ter
ENST00000687643.1:c.1387C>T ENSP00000509309.1:p.Gln463Ter
ENST00000688487.1:n.1723C>T
ENST00000688934.1:c.-132-47671C>T ENSP00000510760.1:n.-132-47671C>T
ENST00000690631.1:n.1937C>T
ENST00000692450.1:c.*1157C>T ENSP00000510283.1:n.*1157C>T
ENST00000693085.1:c.*1187C>T ENSP00000508746.1:n.*1187C>T
ENST00000693604.1:c.*378C>T ENSP00000509917.1:n.*378C>T
XM_006714228.1:c.1360C>T XP_006714291.1:p.Gln454Ter
XM_011532003.1:c.1360C>T XP_011530305.1:p.Gln454Ter
XM_011532004.1:c.1360C>T XP_011530306.1:p.Gln454Ter
XM_011532005.1:c.1360C>T XP_011530307.1:p.Gln454Ter
XM_011532005.2:c.1360C>T XP_011530307.1:p.Gln454Ter
XM_017008249.1:c.739C>T XP_016863738.1:p.Gln247Ter
XM_017008251.1:c.739C>T XP_016863740.1:p.Gln247Ter
XM_017008252.2:c.739C>T XP_016863741.1:p.Gln247Ter
XM_017008253.1:c.208C>T XP_016863742.1:p.Gln70Ter
XM_017008254.1:c.4C>T XP_016863743.1:p.Gln2Ter
XM_024454065.1:c.739C>T XP_024309833.1:p.Gln247Ter
XR_001741233.1:n.1940C>T
XR_001741234.2:n.1885C>T