Canonical Allele Identifier: CA3137755

Gene: NEK1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169555975C>T , CM000666.2:g.169555975C>T	GRCh38
NC_000004.11:g.170477126C>T , CM000666.1:g.170477126C>T	GRCh37
NC_000004.10:g.170713701C>T	NCBI36
NG_027982.1:g.61653G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.1303G>A	ENSP00000508844.1:p.Ala435Thr
ENST00000685677.1:n.685G>A
ENST00000686697.1:c.1261G>A	ENSP00000508689.1:p.Ala421Thr
ENST00000687054.1:n.1965G>A
ENST00000687219.1:c.*974G>A	ENSP00000509736.1:n.*974G>A
ENST00000687528.1:c.1387G>A	ENSP00000510228.1:p.Ala463Thr
ENST00000687643.1:c.1414G>A	ENSP00000509309.1:p.Ala472Thr
ENST00000688487.1:n.1750G>A
ENST00000688934.1:c.-132-47644G>A	ENSP00000510760.1:n.-132-47644G>A
ENST00000690631.1:n.1964G>A
ENST00000692450.1:c.*1184G>A	ENSP00000510283.1:n.*1184G>A
ENST00000693085.1:c.*1214G>A	ENSP00000508746.1:n.*1214G>A
ENST00000693604.1:c.*405G>A	ENSP00000509917.1:n.*405G>A
ENST00000507142.6:c.1387G>A MANE Select	ENSP00000424757.2:p.Ala463Thr
ENST00000439128.6:c.1387G>A	ENSP00000408020.2:p.Ala463Thr
ENST00000507142.5:c.1387G>A	ENSP00000424757.1:p.Ala463Thr
ENST00000509912.5:n.1119G>A
ENST00000510533.5:c.1387G>A	ENSP00000427653.1:p.Ala463Thr
ENST00000511633.5:c.1387G>A	ENSP00000423332.1:p.Ala463Thr
ENST00000512193.5:c.1312G>A	ENSP00000424938.1:p.Ala438Thr
NM_001199397.1:c.1387G>A	NP_001186326.1:p.Ala463Thr
NM_001199398.1:c.1387G>A	NP_001186327.1:p.Ala463Thr
NM_001199399.1:c.1312G>A	NP_001186328.1:p.Ala438Thr
NM_001199400.1:c.1387G>A	NP_001186329.1:p.Ala463Thr
NM_012224.2:c.1387G>A	NP_036356.1:p.Ala463Thr
XM_006714228.1:c.1387G>A	XP_006714291.1:p.Ala463Thr
XM_011532003.1:c.1387G>A	XP_011530305.1:p.Ala463Thr
XM_011532004.1:c.1387G>A	XP_011530306.1:p.Ala463Thr
XM_011532005.1:c.1387G>A	XP_011530307.1:p.Ala463Thr
XM_011532005.2:c.1387G>A	XP_011530307.1:p.Ala463Thr
XM_017008249.1:c.766G>A	XP_016863738.1:p.Ala256Thr
XM_017008251.1:c.766G>A	XP_016863740.1:p.Ala256Thr
XM_017008252.2:c.766G>A	XP_016863741.1:p.Ala256Thr
XM_017008253.1:c.235G>A	XP_016863742.1:p.Ala79Thr
XM_017008254.1:c.31G>A	XP_016863743.1:p.Ala11Thr
XM_024454065.1:c.766G>A	XP_024309833.1:p.Ala256Thr
XR_001741233.1:n.1967G>A
XR_001741234.2:n.1912G>A
NM_001199397.3:c.1387G>A MANE Select	NP_001186326.1:p.Ala463Thr
NM_001199398.2:c.1387G>A	NP_001186327.1:p.Ala463Thr
NM_001199399.2:c.1312G>A	NP_001186328.1:p.Ala438Thr
NM_001199400.2:c.1387G>A	NP_001186329.1:p.Ala463Thr
NM_001374418.1:c.1387G>A	NP_001361347.1:p.Ala463Thr
NM_001374419.1:c.1387G>A	NP_001361348.1:p.Ala463Thr
NM_001374420.1:c.1336G>A	NP_001361349.1:p.Ala446Thr
NM_001374421.1:c.1261G>A	NP_001361350.1:p.Ala421Thr
NM_012224.3:c.1387G>A	NP_036356.1:p.Ala463Thr
NR_164630.1:n.1901G>A
NM_001199398.3:c.1387G>A	NP_001186327.1:p.Ala463Thr
NM_001199399.3:c.1312G>A	NP_001186328.1:p.Ala438Thr
NM_001199400.3:c.1387G>A	NP_001186329.1:p.Ala463Thr
NM_012224.4:c.1387G>A	NP_036356.1:p.Ala463Thr