Canonical Allele Identifier: CA3137369
Community Standard Title: NM_001199397.3(NEK1):c.2588-2A>G
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169438261T>C , CM000666.2:g.169438261T>C GRCh38
NC_000004.11:g.170359412T>C , CM000666.1:g.170359412T>C GRCh37
NC_000004.10:g.170595987T>C NCBI36
NG_027982.1:g.179367A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.2588-2A>G MANE Select NP_001186326.1:n.2588-2A>G
ENST00000507142.6:c.2588-2A>G MANE Select ENSP00000424757.2:n.2588-2A>G
NM_001199397.1:c.2588-2A>G NP_001186326.1:n.2588-2A>G
NM_001199398.1:c.2456-2A>G NP_001186327.1:n.2456-2A>G
NM_001199398.2:c.2456-2A>G NP_001186327.1:n.2456-2A>G
NM_001199398.3:c.2456-2A>G NP_001186327.1:n.2456-2A>G
NM_001199399.1:c.2297-2A>G NP_001186328.1:n.2297-2A>G
NM_001199399.2:c.2297-2A>G NP_001186328.1:n.2297-2A>G
NM_001199399.3:c.2297-2A>G NP_001186328.1:n.2297-2A>G
NM_001199400.1:c.2372-2A>G NP_001186329.1:n.2372-2A>G
NM_001199400.2:c.2372-2A>G NP_001186329.1:n.2372-2A>G
NM_001199400.3:c.2372-2A>G NP_001186329.1:n.2372-2A>G
NM_001374418.1:c.2588-2A>G NP_001361347.1:n.2588-2A>G
NM_001374419.1:c.2504-2A>G NP_001361348.1:n.2504-2A>G
NM_001374420.1:c.2453-2A>G NP_001361349.1:n.2453-2A>G
NM_001374421.1:c.2282-4596A>G NP_001361350.1:n.2282-4596A>G
NM_012224.2:c.2504-2A>G NP_036356.1:n.2504-2A>G
NM_012224.3:c.2504-2A>G NP_036356.1:n.2504-2A>G
NM_012224.4:c.2504-2A>G NP_036356.1:n.2504-2A>G
NR_164630.1:n.3050-2A>G
ENST00000439128.6:c.2504-2A>G ENSP00000408020.2:n.2504-2A>G
ENST00000507142.5:c.2588-2A>G ENSP00000424757.1:n.2588-2A>G
ENST00000510533.5:c.2372-2A>G ENSP00000427653.1:n.2372-2A>G
ENST00000511633.5:c.2456-2A>G ENSP00000423332.1:n.2456-2A>G
ENST00000512193.5:c.2297-2A>G ENSP00000424938.1:n.2297-2A>G
ENST00000638824.1:n.716-2A>G
ENST00000685111.1:c.2420-2A>G ENSP00000508844.1:n.2420-2A>G
ENST00000685677.1:n.1886-2A>G
ENST00000686697.1:c.2282-4596A>G ENSP00000508689.1:n.2282-4596A>G
ENST00000687054.1:n.3082-2A>G
ENST00000687528.1:c.*1323-2A>G ENSP00000510228.1:n.*1323-2A>G
ENST00000687643.1:c.2531-2A>G ENSP00000509309.1:n.2531-2A>G
ENST00000688934.1:c.611-2A>G ENSP00000510760.1:n.611-2A>G
ENST00000690540.1:n.2038-2A>G
XM_006714228.1:c.2588-4596A>G XP_006714291.1:n.2588-4596A>G
XM_011532003.1:c.2504-2A>G XP_011530305.1:n.2504-2A>G
XM_011532004.1:c.2372-2A>G XP_011530306.1:n.2372-2A>G
XM_017008249.1:c.1967-2A>G XP_016863738.1:n.1967-2A>G
XM_017008251.1:c.1883-2A>G XP_016863740.1:n.1883-2A>G
XM_017008252.2:c.1883-2A>G XP_016863741.1:n.1883-2A>G
XM_017008253.1:c.1436-2A>G XP_016863742.1:n.1436-2A>G
XM_017008254.1:c.1232-2A>G XP_016863743.1:n.1232-2A>G
XM_024454065.1:c.1967-2A>G XP_024309833.1:n.1967-2A>G
XR_001741233.1:n.2873-2A>G
XR_001741234.2:n.3864-2A>G