Canonical Allele Identifier: CA358734533

Gene: NEK1

Linked Data

• MyVariant Identifiers: chr4:g.170482986A>C (hg19) ; chr4:g.169561835A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169561835A>C , CM000666.2:g.169561835A>C	GRCh38
NC_000004.11:g.170482986A>C , CM000666.1:g.170482986A>C	GRCh37
NC_000004.10:g.170719561A>C	NCBI36
NG_027982.1:g.55793T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.1053T>G	ENSP00000508844.1:p.Asp351Glu
ENST00000685677.1:n.435T>G
ENST00000686697.1:c.1137T>G	ENSP00000508689.1:p.Asp379Glu
ENST00000687054.1:n.1715T>G
ENST00000687219.1:c.*775T>G	ENSP00000509736.1:n.*775T>G
ENST00000687528.1:c.1137T>G	ENSP00000510228.1:p.Asp379Glu
ENST00000687643.1:c.1164T>G	ENSP00000509309.1:p.Asp388Glu
ENST00000688487.1:n.1500T>G
ENST00000688653.1:n.1714T>G
ENST00000688934.1:c.-133+50185T>G	ENSP00000510760.1:n.-133+50185T>G
ENST00000690631.1:n.1714T>G
ENST00000692218.1:n.1791T>G
ENST00000692450.1:c.*934T>G	ENSP00000510283.1:n.*934T>G
ENST00000692868.1:c.*720T>G	ENSP00000510531.1:n.*720T>G
ENST00000693085.1:c.*964T>G	ENSP00000508746.1:n.*964T>G
ENST00000693604.1:c.*191T>G	ENSP00000509917.1:n.*191T>G
ENST00000507142.6:c.1137T>G MANE Select	ENSP00000424757.2:p.Asp379Glu
ENST00000439128.6:c.1137T>G	ENSP00000408020.2:p.Asp379Glu
ENST00000507142.5:c.1137T>G	ENSP00000424757.1:p.Asp379Glu
ENST00000509912.5:n.869T>G
ENST00000510533.5:c.1137T>G	ENSP00000427653.1:p.Asp379Glu
ENST00000511633.5:c.1137T>G	ENSP00000423332.1:p.Asp379Glu
ENST00000512193.5:c.1137T>G	ENSP00000424938.1:p.Asp379Glu
NM_001199397.1:c.1137T>G	NP_001186326.1:p.Asp379Glu
NM_001199398.1:c.1137T>G	NP_001186327.1:p.Asp379Glu
NM_001199399.1:c.1137T>G	NP_001186328.1:p.Asp379Glu
NM_001199400.1:c.1137T>G	NP_001186329.1:p.Asp379Glu
NM_012224.2:c.1137T>G	NP_036356.1:p.Asp379Glu
XM_006714228.1:c.1137T>G	XP_006714291.1:p.Asp379Glu
XM_011532003.1:c.1137T>G	XP_011530305.1:p.Asp379Glu
XM_011532004.1:c.1137T>G	XP_011530306.1:p.Asp379Glu
XM_011532005.1:c.1137T>G	XP_011530307.1:p.Asp379Glu
XM_011532005.2:c.1137T>G	XP_011530307.1:p.Asp379Glu
XM_017008249.1:c.516T>G	XP_016863738.1:p.Asp172Glu
XM_017008251.1:c.516T>G	XP_016863740.1:p.Asp172Glu
XM_017008252.2:c.516T>G	XP_016863741.1:p.Asp172Glu
XM_017008253.1:c.-16T>G	XP_016863742.1:n.-16T>G
XM_017008254.1:c.-370T>G	XP_016863743.1:n.-370T>G
XM_024454065.1:c.516T>G	XP_024309833.1:p.Asp172Glu
XR_001741233.1:n.1717T>G
XR_001741234.2:n.1662T>G
NM_001199397.3:c.1137T>G MANE Select	NP_001186326.1:p.Asp379Glu
NM_001199398.2:c.1137T>G	NP_001186327.1:p.Asp379Glu
NM_001199399.2:c.1137T>G	NP_001186328.1:p.Asp379Glu
NM_001199400.2:c.1137T>G	NP_001186329.1:p.Asp379Glu
NM_001374418.1:c.1137T>G	NP_001361347.1:p.Asp379Glu
NM_001374419.1:c.1137T>G	NP_001361348.1:p.Asp379Glu
NM_001374420.1:c.1137T>G	NP_001361349.1:p.Asp379Glu
NM_001374421.1:c.1137T>G	NP_001361350.1:p.Asp379Glu
NM_001374422.1:c.1137T>G	NP_001361351.1:p.Asp379Glu
NM_001374423.1:c.1137T>G	NP_001361352.1:p.Asp379Glu
NM_012224.3:c.1137T>G	NP_036356.1:p.Asp379Glu
NR_164630.1:n.1651T>G
NR_164631.1:n.1518T>G
NM_001199398.3:c.1137T>G	NP_001186327.1:p.Asp379Glu
NM_001199399.3:c.1137T>G	NP_001186328.1:p.Asp379Glu
NM_001199400.3:c.1137T>G	NP_001186329.1:p.Asp379Glu
NM_012224.4:c.1137T>G	NP_036356.1:p.Asp379Glu