Canonical Allele Identifier: CA358733542

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169555718A>C , CM000666.2:g.169555718A>C	GRCh38
NC_000004.11:g.170476869A>C , CM000666.1:g.170476869A>C	GRCh37
NC_000004.10:g.170713444A>C	NCBI36
NG_027982.1:g.61910T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001199397.3:c.1562+2T>G MANE Select	NP_001186326.1:n.1562+2T>G
ENST00000507142.6:c.1562+2T>G MANE Select	ENSP00000424757.2:n.1562+2T>G
NM_001199397.1:c.1562+2T>G	NP_001186326.1:n.1562+2T>G
NM_001199398.1:c.1430+214T>G	NP_001186327.1:n.1430+214T>G
NM_001199398.2:c.1430+214T>G	NP_001186327.1:n.1430+214T>G
NM_001199398.3:c.1430+214T>G	NP_001186327.1:n.1430+214T>G
NM_001199399.1:c.1355+214T>G	NP_001186328.1:n.1355+214T>G
NM_001199399.2:c.1355+214T>G	NP_001186328.1:n.1355+214T>G
NM_001199399.3:c.1355+214T>G	NP_001186328.1:n.1355+214T>G
NM_001199400.1:c.1430+214T>G	NP_001186329.1:n.1430+214T>G
NM_001199400.2:c.1430+214T>G	NP_001186329.1:n.1430+214T>G
NM_001199400.3:c.1430+214T>G	NP_001186329.1:n.1430+214T>G
NM_001374418.1:c.1562+2T>G	NP_001361347.1:n.1562+2T>G
NM_001374419.1:c.1562+2T>G	NP_001361348.1:n.1562+2T>G
NM_001374420.1:c.1511+2T>G	NP_001361349.1:n.1511+2T>G
NM_001374421.1:c.1436+2T>G	NP_001361350.1:n.1436+2T>G
NM_012224.2:c.1562+2T>G	NP_036356.1:n.1562+2T>G
NM_012224.3:c.1562+2T>G	NP_036356.1:n.1562+2T>G
NM_012224.4:c.1562+2T>G	NP_036356.1:n.1562+2T>G
NR_164630.1:n.2078T>G
ENST00000439128.6:c.1562+2T>G	ENSP00000408020.2:n.1562+2T>G
ENST00000507142.5:c.1562+2T>G	ENSP00000424757.1:n.1562+2T>G
ENST00000509912.5:n.1296T>G
ENST00000510533.5:c.1430+214T>G	ENSP00000427653.1:n.1430+214T>G
ENST00000511633.5:c.1430+214T>G	ENSP00000423332.1:n.1430+214T>G
ENST00000512193.5:c.1355+214T>G	ENSP00000424938.1:n.1355+214T>G
ENST00000685111.1:c.1478+2T>G	ENSP00000508844.1:n.1478+2T>G
ENST00000685677.1:n.860+2T>G
ENST00000686697.1:c.1436+2T>G	ENSP00000508689.1:n.1436+2T>G
ENST00000687054.1:n.2140+2T>G
ENST00000687219.1:c.*1149+2T>G	ENSP00000509736.1:n.*1149+2T>G
ENST00000687528.1:c.1430+214T>G	ENSP00000510228.1:n.1430+214T>G
ENST00000687643.1:c.1589+2T>G	ENSP00000509309.1:n.1589+2T>G
ENST00000688487.1:n.1927T>G
ENST00000688934.1:c.-132-47387T>G	ENSP00000510760.1:n.-132-47387T>G
ENST00000690631.1:n.2139+2T>G
ENST00000692450.1:c.*1227+214T>G	ENSP00000510283.1:n.*1227+214T>G
ENST00000693085.1:c.*1389+2T>G	ENSP00000508746.1:n.*1389+2T>G
ENST00000693604.1:c.*580+2T>G	ENSP00000509917.1:n.*580+2T>G
XM_006714228.1:c.1562+2T>G	XP_006714291.1:n.1562+2T>G
XM_011532003.1:c.1562+2T>G	XP_011530305.1:n.1562+2T>G
XM_011532004.1:c.1430+214T>G	XP_011530306.1:n.1430+214T>G
XM_011532005.1:c.1562+2T>G	XP_011530307.1:n.1562+2T>G
XM_011532005.2:c.1562+2T>G	XP_011530307.1:n.1562+2T>G
XM_017008249.1:c.941+2T>G	XP_016863738.1:n.941+2T>G
XM_017008251.1:c.941+2T>G	XP_016863740.1:n.941+2T>G
XM_017008252.2:c.941+2T>G	XP_016863741.1:n.941+2T>G
XM_017008253.1:c.410+2T>G	XP_016863742.1:n.410+2T>G
XM_017008254.1:c.206+2T>G	XP_016863743.1:n.206+2T>G
XM_024454065.1:c.941+2T>G	XP_024309833.1:n.941+2T>G
XR_001741233.1:n.2142+2T>G
XR_001741234.2:n.1955+214T>G