Canonical Allele Identifier: CA358800254
Community Standard Title: NM_001199397.3(NEK1):c.3586A>G (p.Asn1196Asp)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169400649T>C , CM000666.2:g.169400649T>C GRCh38
NC_000004.11:g.170321800T>C , CM000666.1:g.170321800T>C GRCh37
NC_000004.10:g.170558375T>C NCBI36
NG_027982.1:g.216979A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.3586A>G MANE Select NP_001186326.1:p.Asn1196Asp
ENST00000507142.6:c.3586A>G MANE Select ENSP00000424757.2:p.Asn1196Asp
NM_001199397.1:c.3586A>G NP_001186326.1:p.Asn1196Asp
NM_001199398.1:c.3454A>G NP_001186327.1:p.Asn1152Asp
NM_001199398.2:c.3454A>G NP_001186327.1:p.Asn1152Asp
NM_001199398.3:c.3454A>G NP_001186327.1:p.Asn1152Asp
NM_001199399.1:c.3295A>G NP_001186328.1:p.Asn1099Asp
NM_001199399.2:c.3295A>G NP_001186328.1:p.Asn1099Asp
NM_001199399.3:c.3295A>G NP_001186328.1:p.Asn1099Asp
NM_001199400.1:c.3370A>G NP_001186329.1:p.Asn1124Asp
NM_001199400.2:c.3370A>G NP_001186329.1:p.Asn1124Asp
NM_001199400.3:c.3370A>G NP_001186329.1:p.Asn1124Asp
NM_001374418.1:c.3586A>G NP_001361347.1:p.Asn1196Asp
NM_001374419.1:c.3502A>G NP_001361348.1:p.Asn1168Asp
NM_001374420.1:c.3451A>G NP_001361349.1:p.Asn1151Asp
NM_001374421.1:c.3103A>G NP_001361350.1:p.Asn1035Asp
NM_012224.2:c.3502A>G NP_036356.1:p.Asn1168Asp
NM_012224.3:c.3502A>G NP_036356.1:p.Asn1168Asp
NM_012224.4:c.3502A>G NP_036356.1:p.Asn1168Asp
NR_164630.1:n.4048A>G
ENST00000439128.6:c.3502A>G ENSP00000408020.2:p.Asn1168Asp
ENST00000507142.5:c.3586A>G ENSP00000424757.1:p.Asn1196Asp
ENST00000510533.5:c.3370A>G ENSP00000427653.1:p.Asn1124Asp
ENST00000511633.5:c.3454A>G ENSP00000423332.1:p.Asn1152Asp
ENST00000512193.5:c.3295A>G ENSP00000424938.1:p.Asn1099Asp
ENST00000638824.1:n.1714A>G
ENST00000685111.1:c.3418A>G ENSP00000508844.1:p.Asn1140Asp
ENST00000685677.1:n.2884A>G
ENST00000686697.1:c.3103A>G ENSP00000508689.1:p.Asn1035Asp
ENST00000687054.1:n.4080A>G
ENST00000687528.1:c.*2321A>G ENSP00000510228.1:n.*2321A>G
ENST00000687643.1:c.3529A>G ENSP00000509309.1:p.Asn1177Asp
ENST00000688934.1:c.1609A>G ENSP00000510760.1:p.Asn537Asp
ENST00000690540.1:n.3036A>G
XM_006714228.1:c.3409A>G XP_006714291.1:p.Asn1137Asp
XM_011532003.1:c.3502A>G XP_011530305.1:p.Asn1168Asp
XM_011532004.1:c.3370A>G XP_011530306.1:p.Asn1124Asp
XM_017008249.1:c.2965A>G XP_016863738.1:p.Asn989Asp
XM_017008251.1:c.2881A>G XP_016863740.1:p.Asn961Asp
XM_017008252.2:c.2881A>G XP_016863741.1:p.Asn961Asp
XM_017008253.1:c.2434A>G XP_016863742.1:p.Asn812Asp
XM_017008254.1:c.2230A>G XP_016863743.1:p.Asn744Asp
XM_024454065.1:c.2965A>G XP_024309833.1:p.Asn989Asp
XR_001741233.1:n.3871A>G