Canonical Allele Identifier: CA358799912
Community Standard Title: NM_001199397.3(NEK1):c.3722A>G (p.His1241Arg)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169400350T>C , CM000666.2:g.169400350T>C GRCh38
NC_000004.11:g.170321501T>C , CM000666.1:g.170321501T>C GRCh37
NC_000004.10:g.170558076T>C NCBI36
NG_027982.1:g.217278A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.3722A>G MANE Select NP_001186326.1:p.His1241Arg
ENST00000507142.6:c.3722A>G MANE Select ENSP00000424757.2:p.His1241Arg
NM_001199397.1:c.3722A>G NP_001186326.1:p.His1241Arg
NM_001199398.1:c.3590A>G NP_001186327.1:p.His1197Arg
NM_001199398.2:c.3590A>G NP_001186327.1:p.His1197Arg
NM_001199398.3:c.3590A>G NP_001186327.1:p.His1197Arg
NM_001199399.1:c.3431A>G NP_001186328.1:p.His1144Arg
NM_001199399.2:c.3431A>G NP_001186328.1:p.His1144Arg
NM_001199399.3:c.3431A>G NP_001186328.1:p.His1144Arg
NM_001199400.1:c.3506A>G NP_001186329.1:p.His1169Arg
NM_001199400.2:c.3506A>G NP_001186329.1:p.His1169Arg
NM_001199400.3:c.3506A>G NP_001186329.1:p.His1169Arg
NM_001374418.1:c.3722A>G NP_001361347.1:p.His1241Arg
NM_001374419.1:c.3638A>G NP_001361348.1:p.His1213Arg
NM_001374420.1:c.3587A>G NP_001361349.1:p.His1196Arg
NM_001374421.1:c.3239A>G NP_001361350.1:p.His1080Arg
NM_012224.2:c.3638A>G NP_036356.1:p.His1213Arg
NM_012224.3:c.3638A>G NP_036356.1:p.His1213Arg
NM_012224.4:c.3638A>G NP_036356.1:p.His1213Arg
NR_164630.1:n.4184A>G
ENST00000439128.6:c.3638A>G ENSP00000408020.2:p.His1213Arg
ENST00000507142.5:c.3722A>G ENSP00000424757.1:p.His1241Arg
ENST00000510533.5:c.3506A>G ENSP00000427653.1:p.His1169Arg
ENST00000511633.5:c.3590A>G ENSP00000423332.1:p.His1197Arg
ENST00000512193.5:c.3431A>G ENSP00000424938.1:p.His1144Arg
ENST00000638824.1:n.1850A>G
ENST00000685111.1:c.3554A>G ENSP00000508844.1:p.His1185Arg
ENST00000685677.1:n.3020A>G
ENST00000686697.1:c.3239A>G ENSP00000508689.1:p.His1080Arg
ENST00000687054.1:n.4216A>G
ENST00000687528.1:c.*2457A>G ENSP00000510228.1:n.*2457A>G
ENST00000687643.1:c.3665A>G ENSP00000509309.1:p.His1222Arg
ENST00000688934.1:c.1745A>G ENSP00000510760.1:p.His582Arg
ENST00000690540.1:n.3172A>G
XM_006714228.1:c.3545A>G XP_006714291.1:p.His1182Arg
XM_011532003.1:c.3638A>G XP_011530305.1:p.His1213Arg
XM_011532004.1:c.3506A>G XP_011530306.1:p.His1169Arg
XM_017008249.1:c.3101A>G XP_016863738.1:p.His1034Arg
XM_017008251.1:c.3017A>G XP_016863740.1:p.His1006Arg
XM_017008252.2:c.3017A>G XP_016863741.1:p.His1006Arg
XM_017008253.1:c.2570A>G XP_016863742.1:p.His857Arg
XM_017008254.1:c.2366A>G XP_016863743.1:p.His789Arg
XM_024454065.1:c.3101A>G XP_024309833.1:p.His1034Arg
XR_001741233.1:n.4007A>G