Canonical Allele Identifier: CA3137116
Gene: NEK1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169400613C>T , CM000666.2:g.169400613C>T GRCh38
NC_000004.11:g.170321764C>T , CM000666.1:g.170321764C>T GRCh37
NC_000004.10:g.170558339C>T NCBI36
NG_027982.1:g.217015G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000685111.1:c.3454G>A ENSP00000508844.1:p.Asp1152Asn
ENST00000685677.1:n.2920G>A
ENST00000686697.1:c.3139G>A ENSP00000508689.1:p.Asp1047Asn
ENST00000687054.1:n.4116G>A
ENST00000687528.1:c.*2357G>A ENSP00000510228.1:n.*2357G>A
ENST00000687643.1:c.3565G>A ENSP00000509309.1:p.Asp1189Asn
ENST00000688934.1:c.1645G>A ENSP00000510760.1:p.Asp549Asn
ENST00000690540.1:n.3072G>A
ENST00000507142.6:c.3622G>A MANE Select ENSP00000424757.2:p.Asp1208Asn
ENST00000638824.1:n.1750G>A
ENST00000439128.6:c.3538G>A ENSP00000408020.2:p.Asp1180Asn
ENST00000507142.5:c.3622G>A ENSP00000424757.1:p.Asp1208Asn
ENST00000510533.5:c.3406G>A ENSP00000427653.1:p.Asp1136Asn
ENST00000511633.5:c.3490G>A ENSP00000423332.1:p.Asp1164Asn
ENST00000512193.5:c.3331G>A ENSP00000424938.1:p.Asp1111Asn
NM_001199397.1:c.3622G>A NP_001186326.1:p.Asp1208Asn
NM_001199398.1:c.3490G>A NP_001186327.1:p.Asp1164Asn
NM_001199399.1:c.3331G>A NP_001186328.1:p.Asp1111Asn
NM_001199400.1:c.3406G>A NP_001186329.1:p.Asp1136Asn
NM_012224.2:c.3538G>A NP_036356.1:p.Asp1180Asn
XM_006714228.1:c.3445G>A XP_006714291.1:p.Asp1149Asn
XM_011532003.1:c.3538G>A XP_011530305.1:p.Asp1180Asn
XM_011532004.1:c.3406G>A XP_011530306.1:p.Asp1136Asn
XM_017008249.1:c.3001G>A XP_016863738.1:p.Asp1001Asn
XM_017008251.1:c.2917G>A XP_016863740.1:p.Asp973Asn
XM_017008252.2:c.2917G>A XP_016863741.1:p.Asp973Asn
XM_017008253.1:c.2470G>A XP_016863742.1:p.Asp824Asn
XM_017008254.1:c.2266G>A XP_016863743.1:p.Asp756Asn
XM_024454065.1:c.3001G>A XP_024309833.1:p.Asp1001Asn
XR_001741233.1:n.3907G>A
NM_001199397.3:c.3622G>A MANE Select NP_001186326.1:p.Asp1208Asn
NM_001199398.2:c.3490G>A NP_001186327.1:p.Asp1164Asn
NM_001199399.2:c.3331G>A NP_001186328.1:p.Asp1111Asn
NM_001199400.2:c.3406G>A NP_001186329.1:p.Asp1136Asn
NM_001374418.1:c.3622G>A NP_001361347.1:p.Asp1208Asn
NM_001374419.1:c.3538G>A NP_001361348.1:p.Asp1180Asn
NM_001374420.1:c.3487G>A NP_001361349.1:p.Asp1163Asn
NM_001374421.1:c.3139G>A NP_001361350.1:p.Asp1047Asn
NM_012224.3:c.3538G>A NP_036356.1:p.Asp1180Asn
NR_164630.1:n.4084G>A
NM_001199398.3:c.3490G>A NP_001186327.1:p.Asp1164Asn
NM_001199399.3:c.3331G>A NP_001186328.1:p.Asp1111Asn
NM_001199400.3:c.3406G>A NP_001186329.1:p.Asp1136Asn
NM_012224.4:c.3538G>A NP_036356.1:p.Asp1180Asn