Canonical Allele Identifier: CA3137557
Community Standard Title: NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169507087G>A , CM000666.2:g.169507087G>A GRCh38
NC_000004.11:g.170428238G>A , CM000666.1:g.170428238G>A GRCh37
NC_000004.10:g.170664813G>A NCBI36
NG_027982.1:g.110541C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.1957C>T MANE Select NP_001186326.1:p.Arg653Ter
ENST00000507142.6:c.1957C>T MANE Select ENSP00000424757.2:p.Arg653Ter
NM_001199397.1:c.1957C>T NP_001186326.1:p.Arg653Ter
NM_001199398.1:c.1825C>T NP_001186327.1:p.Arg609Ter
NM_001199398.2:c.1825C>T NP_001186327.1:p.Arg609Ter
NM_001199398.3:c.1825C>T NP_001186327.1:p.Arg609Ter
NM_001199399.1:c.1666C>T NP_001186328.1:p.Arg556Ter
NM_001199399.2:c.1666C>T NP_001186328.1:p.Arg556Ter
NM_001199399.3:c.1666C>T NP_001186328.1:p.Arg556Ter
NM_001199400.1:c.1741C>T NP_001186329.1:p.Arg581Ter
NM_001199400.2:c.1741C>T NP_001186329.1:p.Arg581Ter
NM_001199400.3:c.1741C>T NP_001186329.1:p.Arg581Ter
NM_001374418.1:c.1957C>T NP_001361347.1:p.Arg653Ter
NM_001374419.1:c.1873C>T NP_001361348.1:p.Arg625Ter
NM_001374420.1:c.1822C>T NP_001361349.1:p.Arg608Ter
NM_001374421.1:c.1701+628C>T NP_001361350.1:n.1701+628C>T
NM_012224.2:c.1873C>T NP_036356.1:p.Arg625Ter
NM_012224.3:c.1873C>T NP_036356.1:p.Arg625Ter
NM_012224.4:c.1873C>T NP_036356.1:p.Arg625Ter
NR_164630.1:n.2419C>T
ENST00000439128.6:c.1873C>T ENSP00000408020.2:p.Arg625Ter
ENST00000507142.5:c.1957C>T ENSP00000424757.1:p.Arg653Ter
ENST00000510533.5:c.1741C>T ENSP00000427653.1:p.Arg581Ter
ENST00000511633.5:c.1825C>T ENSP00000423332.1:p.Arg609Ter
ENST00000512193.5:c.1666C>T ENSP00000424938.1:p.Arg556Ter
ENST00000685111.1:c.1789C>T ENSP00000508844.1:p.Arg597Ter
ENST00000685677.1:n.1255C>T
ENST00000686697.1:c.1701+628C>T ENSP00000508689.1:n.1701+628C>T
ENST00000687054.1:n.2451C>T
ENST00000687219.1:c.*1460C>T ENSP00000509736.1:n.*1460C>T
ENST00000687528.1:c.1825C>T ENSP00000510228.1:p.Arg609Ter
ENST00000687643.1:c.1900C>T ENSP00000509309.1:p.Arg634Ter
ENST00000688934.1:c.30+628C>T ENSP00000510760.1:n.30+628C>T
ENST00000689190.1:n.1843C>T
ENST00000692450.1:c.*1622C>T ENSP00000510283.1:n.*1622C>T
ENST00000693085.1:c.*1700C>T ENSP00000508746.1:n.*1700C>T
ENST00000693604.1:c.*891C>T ENSP00000509917.1:n.*891C>T
XM_006714228.1:c.1957C>T XP_006714291.1:p.Arg653Ter
XM_011532003.1:c.1873C>T XP_011530305.1:p.Arg625Ter
XM_011532004.1:c.1741C>T XP_011530306.1:p.Arg581Ter
XM_011532005.1:c.1957C>T XP_011530307.1:p.Arg653Ter
XM_011532005.2:c.1957C>T XP_011530307.1:p.Arg653Ter
XM_017008249.1:c.1336C>T XP_016863738.1:p.Arg446Ter
XM_017008251.1:c.1252C>T XP_016863740.1:p.Arg418Ter
XM_017008252.2:c.1252C>T XP_016863741.1:p.Arg418Ter
XM_017008253.1:c.805C>T XP_016863742.1:p.Arg269Ter
XM_017008254.1:c.601C>T XP_016863743.1:p.Arg201Ter
XM_024454065.1:c.1336C>T XP_024309833.1:p.Arg446Ter
XR_001741233.1:n.2537C>T
XR_001741234.2:n.2350C>T