Canonical Allele Identifier: CA358733375
Community Standard Title: NM_001199397.3(NEK1):c.2089C>T (p.Gln697Ter)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169479453G>A , CM000666.2:g.169479453G>A GRCh38
NC_000004.11:g.170400604G>A , CM000666.1:g.170400604G>A GRCh37
NC_000004.10:g.170637179G>A NCBI36
NG_027982.1:g.138175C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.2089C>T MANE Select NP_001186326.1:p.Gln697Ter
ENST00000507142.6:c.2089C>T MANE Select ENSP00000424757.2:p.Gln697Ter
NM_001199397.1:c.2089C>T NP_001186326.1:p.Gln697Ter
NM_001199398.1:c.1957C>T NP_001186327.1:p.Gln653Ter
NM_001199398.2:c.1957C>T NP_001186327.1:p.Gln653Ter
NM_001199398.3:c.1957C>T NP_001186327.1:p.Gln653Ter
NM_001199399.1:c.1798C>T NP_001186328.1:p.Gln600Ter
NM_001199399.2:c.1798C>T NP_001186328.1:p.Gln600Ter
NM_001199399.3:c.1798C>T NP_001186328.1:p.Gln600Ter
NM_001199400.1:c.1873C>T NP_001186329.1:p.Gln625Ter
NM_001199400.2:c.1873C>T NP_001186329.1:p.Gln625Ter
NM_001199400.3:c.1873C>T NP_001186329.1:p.Gln625Ter
NM_001374418.1:c.2089C>T NP_001361347.1:p.Gln697Ter
NM_001374419.1:c.2005C>T NP_001361348.1:p.Gln669Ter
NM_001374420.1:c.1954C>T NP_001361349.1:p.Gln652Ter
NM_001374421.1:c.1783C>T NP_001361350.1:p.Gln595Ter
NM_012224.2:c.2005C>T NP_036356.1:p.Gln669Ter
NM_012224.3:c.2005C>T NP_036356.1:p.Gln669Ter
NM_012224.4:c.2005C>T NP_036356.1:p.Gln669Ter
NR_164630.1:n.2551C>T
ENST00000439128.6:c.2005C>T ENSP00000408020.2:p.Gln669Ter
ENST00000507142.5:c.2089C>T ENSP00000424757.1:p.Gln697Ter
ENST00000510533.5:c.1873C>T ENSP00000427653.1:p.Gln625Ter
ENST00000511633.5:c.1957C>T ENSP00000423332.1:p.Gln653Ter
ENST00000512193.5:c.1798C>T ENSP00000424938.1:p.Gln600Ter
ENST00000638824.1:n.189C>T
ENST00000685111.1:c.1921C>T ENSP00000508844.1:p.Gln641Ter
ENST00000685677.1:n.1387C>T
ENST00000686697.1:c.1783C>T ENSP00000508689.1:p.Gln595Ter
ENST00000687054.1:n.2583C>T
ENST00000687219.1:c.*1592C>T ENSP00000509736.1:n.*1592C>T
ENST00000687528.1:c.1957C>T ENSP00000510228.1:p.Gln653Ter
ENST00000687643.1:c.2032C>T ENSP00000509309.1:p.Gln678Ter
ENST00000688934.1:c.112C>T ENSP00000510760.1:p.Gln38Ter
ENST00000689190.1:n.1975C>T
ENST00000692450.1:c.*1754C>T ENSP00000510283.1:n.*1754C>T
ENST00000693085.1:c.*1832C>T ENSP00000508746.1:n.*1832C>T
ENST00000693604.1:c.*1023C>T ENSP00000509917.1:n.*1023C>T
XM_006714228.1:c.2089C>T XP_006714291.1:p.Gln697Ter
XM_011532003.1:c.2005C>T XP_011530305.1:p.Gln669Ter
XM_011532004.1:c.1873C>T XP_011530306.1:p.Gln625Ter
XM_011532005.1:c.2089C>T XP_011530307.1:p.Gln697Ter
XM_011532005.2:c.2089C>T XP_011530307.1:p.Gln697Ter
XM_017008249.1:c.1468C>T XP_016863738.1:p.Gln490Ter
XM_017008251.1:c.1384C>T XP_016863740.1:p.Gln462Ter
XM_017008252.2:c.1384C>T XP_016863741.1:p.Gln462Ter
XM_017008253.1:c.937C>T XP_016863742.1:p.Gln313Ter
XM_017008254.1:c.733C>T XP_016863743.1:p.Gln245Ter
XM_024454065.1:c.1468C>T XP_024309833.1:p.Gln490Ter
XR_001741233.1:n.2669C>T
XR_001741234.2:n.2482C>T