Canonical Allele Identifier: CA3137486
Community Standard Title: NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169477476G>A , CM000666.2:g.169477476G>A GRCh38
NC_000004.11:g.170398627G>A , CM000666.1:g.170398627G>A GRCh37
NC_000004.10:g.170635202G>A NCBI36
NG_027982.1:g.140152C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.2161C>T MANE Select NP_001186326.1:p.Arg721Trp
ENST00000507142.6:c.2161C>T MANE Select ENSP00000424757.2:p.Arg721Trp
NM_001199397.1:c.2161C>T NP_001186326.1:p.Arg721Trp
NM_001199398.1:c.2029C>T NP_001186327.1:p.Arg677Trp
NM_001199398.2:c.2029C>T NP_001186327.1:p.Arg677Trp
NM_001199398.3:c.2029C>T NP_001186327.1:p.Arg677Trp
NM_001199399.1:c.1870C>T NP_001186328.1:p.Arg624Trp
NM_001199399.2:c.1870C>T NP_001186328.1:p.Arg624Trp
NM_001199399.3:c.1870C>T NP_001186328.1:p.Arg624Trp
NM_001199400.1:c.1945C>T NP_001186329.1:p.Arg649Trp
NM_001199400.2:c.1945C>T NP_001186329.1:p.Arg649Trp
NM_001199400.3:c.1945C>T NP_001186329.1:p.Arg649Trp
NM_001374418.1:c.2161C>T NP_001361347.1:p.Arg721Trp
NM_001374419.1:c.2077C>T NP_001361348.1:p.Arg693Trp
NM_001374420.1:c.2026C>T NP_001361349.1:p.Arg676Trp
NM_001374421.1:c.1855C>T NP_001361350.1:p.Arg619Trp
NM_012224.2:c.2077C>T NP_036356.1:p.Arg693Trp
NM_012224.3:c.2077C>T NP_036356.1:p.Arg693Trp
NM_012224.4:c.2077C>T NP_036356.1:p.Arg693Trp
NR_164630.1:n.2623C>T
ENST00000439128.6:c.2077C>T ENSP00000408020.2:p.Arg693Trp
ENST00000507142.5:c.2161C>T ENSP00000424757.1:p.Arg721Trp
ENST00000510533.5:c.1945C>T ENSP00000427653.1:p.Arg649Trp
ENST00000511633.5:c.2029C>T ENSP00000423332.1:p.Arg677Trp
ENST00000512193.5:c.1870C>T ENSP00000424938.1:p.Arg624Trp
ENST00000638824.1:n.289C>T
ENST00000685111.1:c.1993C>T ENSP00000508844.1:p.Arg665Trp
ENST00000685677.1:n.1459C>T
ENST00000686697.1:c.1855C>T ENSP00000508689.1:p.Arg619Trp
ENST00000687054.1:n.2655C>T
ENST00000687528.1:c.*896C>T ENSP00000510228.1:n.*896C>T
ENST00000687643.1:c.2104C>T ENSP00000509309.1:p.Arg702Trp
ENST00000688934.1:c.184C>T ENSP00000510760.1:p.Arg62Trp
ENST00000690540.1:n.1611C>T
XM_006714228.1:c.2161C>T XP_006714291.1:p.Arg721Trp
XM_011532003.1:c.2077C>T XP_011530305.1:p.Arg693Trp
XM_011532004.1:c.1945C>T XP_011530306.1:p.Arg649Trp
XM_017008249.1:c.1540C>T XP_016863738.1:p.Arg514Trp
XM_017008251.1:c.1456C>T XP_016863740.1:p.Arg486Trp
XM_017008252.2:c.1456C>T XP_016863741.1:p.Arg486Trp
XM_017008253.1:c.1009C>T XP_016863742.1:p.Arg337Trp
XM_017008254.1:c.805C>T XP_016863743.1:p.Arg269Trp
XM_024454065.1:c.1540C>T XP_024309833.1:p.Arg514Trp
XR_001741233.1:n.2719+1927C>T
XR_001741234.2:n.3437C>T