Canonical Allele Identifier: CA3137222
Community Standard Title: NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169424582T>C , CM000666.2:g.169424582T>C GRCh38
NC_000004.11:g.170345733T>C , CM000666.1:g.170345733T>C GRCh37
NC_000004.10:g.170582308T>C NCBI36
NG_027982.1:g.193046A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.3193A>G MANE Select NP_001186326.1:p.Thr1065Ala
ENST00000507142.6:c.3193A>G MANE Select ENSP00000424757.2:p.Thr1065Ala
NM_001199397.1:c.3193A>G NP_001186326.1:p.Thr1065Ala
NM_001199398.1:c.3061A>G NP_001186327.1:p.Thr1021Ala
NM_001199398.2:c.3061A>G NP_001186327.1:p.Thr1021Ala
NM_001199398.3:c.3061A>G NP_001186327.1:p.Thr1021Ala
NM_001199399.1:c.2902A>G NP_001186328.1:p.Thr968Ala
NM_001199399.2:c.2902A>G NP_001186328.1:p.Thr968Ala
NM_001199399.3:c.2902A>G NP_001186328.1:p.Thr968Ala
NM_001199400.1:c.2977A>G NP_001186329.1:p.Thr993Ala
NM_001199400.2:c.2977A>G NP_001186329.1:p.Thr993Ala
NM_001199400.3:c.2977A>G NP_001186329.1:p.Thr993Ala
NM_001374418.1:c.3193A>G NP_001361347.1:p.Thr1065Ala
NM_001374419.1:c.3109A>G NP_001361348.1:p.Thr1037Ala
NM_001374420.1:c.3058A>G NP_001361349.1:p.Thr1020Ala
NM_001374421.1:c.2710A>G NP_001361350.1:p.Thr904Ala
NM_012224.2:c.3109A>G NP_036356.1:p.Thr1037Ala
NM_012224.3:c.3109A>G NP_036356.1:p.Thr1037Ala
NM_012224.4:c.3109A>G NP_036356.1:p.Thr1037Ala
NR_164630.1:n.3655A>G
ENST00000439128.6:c.3109A>G ENSP00000408020.2:p.Thr1037Ala
ENST00000507142.5:c.3193A>G ENSP00000424757.1:p.Thr1065Ala
ENST00000510533.5:c.2977A>G ENSP00000427653.1:p.Thr993Ala
ENST00000511633.5:c.3061A>G ENSP00000423332.1:p.Thr1021Ala
ENST00000512193.5:c.2902A>G ENSP00000424938.1:p.Thr968Ala
ENST00000638824.1:n.1321A>G
ENST00000685111.1:c.3025A>G ENSP00000508844.1:p.Thr1009Ala
ENST00000685677.1:n.2491A>G
ENST00000686697.1:c.2710A>G ENSP00000508689.1:p.Thr904Ala
ENST00000687054.1:n.3687A>G
ENST00000687528.1:c.*1928A>G ENSP00000510228.1:n.*1928A>G
ENST00000687643.1:c.3136A>G ENSP00000509309.1:p.Thr1046Ala
ENST00000688934.1:c.1216A>G ENSP00000510760.1:p.Thr406Ala
ENST00000690540.1:n.2643A>G
XM_006714228.1:c.3016A>G XP_006714291.1:p.Thr1006Ala
XM_011532003.1:c.3109A>G XP_011530305.1:p.Thr1037Ala
XM_011532004.1:c.2977A>G XP_011530306.1:p.Thr993Ala
XM_017008249.1:c.2572A>G XP_016863738.1:p.Thr858Ala
XM_017008251.1:c.2488A>G XP_016863740.1:p.Thr830Ala
XM_017008252.2:c.2488A>G XP_016863741.1:p.Thr830Ala
XM_017008253.1:c.2041A>G XP_016863742.1:p.Thr681Ala
XM_017008254.1:c.1837A>G XP_016863743.1:p.Thr613Ala
XM_024454065.1:c.2572A>G XP_024309833.1:p.Thr858Ala
XR_001741233.1:n.3478A>G