Canonical Allele Identifier: CA442071089

Gene: NEK1

Linked Data

• MyVariant Identifiers: chr4:g.170429465C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169508314C>G , CM000666.2:g.169508314C>G	GRCh38
NC_000004.11:g.170429465C>G , CM000666.1:g.170429465C>G	GRCh37
NC_000004.10:g.170666040C>G	NCBI36
NG_027982.1:g.109314G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.1599G>C	ENSP00000508844.1:p.Leu533=
ENST00000685677.1:n.1065G>C
ENST00000686697.1:c.1557G>C	ENSP00000508689.1:p.Leu519=
ENST00000687054.1:n.2261G>C
ENST00000687219.1:c.*1270G>C	ENSP00000509736.1:n.*1270G>C
ENST00000687528.1:c.1635G>C	ENSP00000510228.1:p.Leu545=
ENST00000687643.1:c.1710G>C	ENSP00000509309.1:p.Leu570=
ENST00000688934.1:c.-115G>C	ENSP00000510760.1:n.-115G>C
ENST00000689190.1:n.1653G>C
ENST00000692450.1:c.*1432G>C	ENSP00000510283.1:n.*1432G>C
ENST00000693085.1:c.*1510G>C	ENSP00000508746.1:n.*1510G>C
ENST00000693604.1:c.*701G>C	ENSP00000509917.1:n.*701G>C
ENST00000507142.6:c.1767G>C MANE Select	ENSP00000424757.2:p.Leu589=
ENST00000439128.6:c.1683G>C	ENSP00000408020.2:p.Leu561=
ENST00000507142.5:c.1767G>C	ENSP00000424757.1:p.Leu589=
ENST00000510533.5:c.1551G>C	ENSP00000427653.1:p.Leu517=
ENST00000511633.5:c.1635G>C	ENSP00000423332.1:p.Leu545=
ENST00000512193.5:c.1476G>C	ENSP00000424938.1:p.Leu492=
NM_001199397.1:c.1767G>C	NP_001186326.1:p.Leu589=
NM_001199398.1:c.1635G>C	NP_001186327.1:p.Leu545=
NM_001199399.1:c.1476G>C	NP_001186328.1:p.Leu492=
NM_001199400.1:c.1551G>C	NP_001186329.1:p.Leu517=
NM_012224.2:c.1683G>C	NP_036356.1:p.Leu561=
XM_006714228.1:c.1767G>C	XP_006714291.1:p.Leu589=
XM_011532003.1:c.1683G>C	XP_011530305.1:p.Leu561=
XM_011532004.1:c.1551G>C	XP_011530306.1:p.Leu517=
XM_011532005.1:c.1767G>C	XP_011530307.1:p.Leu589=
XM_011532005.2:c.1767G>C	XP_011530307.1:p.Leu589=
XM_017008249.1:c.1146G>C	XP_016863738.1:p.Leu382=
XM_017008251.1:c.1062G>C	XP_016863740.1:p.Leu354=
XM_017008252.2:c.1062G>C	XP_016863741.1:p.Leu354=
XM_017008253.1:c.615G>C	XP_016863742.1:p.Leu205=
XM_017008254.1:c.411G>C	XP_016863743.1:p.Leu137=
XM_024454065.1:c.1146G>C	XP_024309833.1:p.Leu382=
XR_001741233.1:n.2347G>C
XR_001741234.2:n.2160G>C
NM_001199397.3:c.1767G>C MANE Select	NP_001186326.1:p.Leu589=
NM_001199398.2:c.1635G>C	NP_001186327.1:p.Leu545=
NM_001199399.2:c.1476G>C	NP_001186328.1:p.Leu492=
NM_001199400.2:c.1551G>C	NP_001186329.1:p.Leu517=
NM_001374418.1:c.1767G>C	NP_001361347.1:p.Leu589=
NM_001374419.1:c.1683G>C	NP_001361348.1:p.Leu561=
NM_001374420.1:c.1632G>C	NP_001361349.1:p.Leu544=
NM_001374421.1:c.1557G>C	NP_001361350.1:p.Leu519=
NM_012224.3:c.1683G>C	NP_036356.1:p.Leu561=
NR_164630.1:n.2229G>C
NM_001199398.3:c.1635G>C	NP_001186327.1:p.Leu545=
NM_001199399.3:c.1476G>C	NP_001186328.1:p.Leu492=
NM_001199400.3:c.1551G>C	NP_001186329.1:p.Leu517=
NM_012224.4:c.1683G>C	NP_036356.1:p.Leu561=