Canonical Allele Identifier: CA442071090

Gene: NEK1

Linked Data

• dbSNP Id: rs1400554131
• gnomAD v2: 4-170429467-G-A
• gnomAD v4: 4-169508316-G-A
• MyVariant Identifiers: chr4:g.170429467G>A (hg19) ; chr4:g.169508316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169508316G>A , CM000666.2:g.169508316G>A	GRCh38
NC_000004.11:g.170429467G>A , CM000666.1:g.170429467G>A	GRCh37
NC_000004.10:g.170666042G>A	NCBI36
NG_027982.1:g.109312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.1597C>T	ENSP00000508844.1:p.Leu533=
ENST00000685677.1:n.1063C>T
ENST00000686697.1:c.1555C>T	ENSP00000508689.1:p.Leu519=
ENST00000687054.1:n.2259C>T
ENST00000687219.1:c.*1268C>T	ENSP00000509736.1:n.*1268C>T
ENST00000687528.1:c.1633C>T	ENSP00000510228.1:p.Leu545=
ENST00000687643.1:c.1708C>T	ENSP00000509309.1:p.Leu570=
ENST00000688934.1:c.-117C>T	ENSP00000510760.1:n.-117C>T
ENST00000689190.1:n.1651C>T
ENST00000692450.1:c.*1430C>T	ENSP00000510283.1:n.*1430C>T
ENST00000693085.1:c.*1508C>T	ENSP00000508746.1:n.*1508C>T
ENST00000693604.1:c.*699C>T	ENSP00000509917.1:n.*699C>T
ENST00000507142.6:c.1765C>T MANE Select	ENSP00000424757.2:p.Leu589=
ENST00000439128.6:c.1681C>T	ENSP00000408020.2:p.Leu561=
ENST00000507142.5:c.1765C>T	ENSP00000424757.1:p.Leu589=
ENST00000510533.5:c.1549C>T	ENSP00000427653.1:p.Leu517=
ENST00000511633.5:c.1633C>T	ENSP00000423332.1:p.Leu545=
ENST00000512193.5:c.1474C>T	ENSP00000424938.1:p.Leu492=
NM_001199397.1:c.1765C>T	NP_001186326.1:p.Leu589=
NM_001199398.1:c.1633C>T	NP_001186327.1:p.Leu545=
NM_001199399.1:c.1474C>T	NP_001186328.1:p.Leu492=
NM_001199400.1:c.1549C>T	NP_001186329.1:p.Leu517=
NM_012224.2:c.1681C>T	NP_036356.1:p.Leu561=
XM_006714228.1:c.1765C>T	XP_006714291.1:p.Leu589=
XM_011532003.1:c.1681C>T	XP_011530305.1:p.Leu561=
XM_011532004.1:c.1549C>T	XP_011530306.1:p.Leu517=
XM_011532005.1:c.1765C>T	XP_011530307.1:p.Leu589=
XM_011532005.2:c.1765C>T	XP_011530307.1:p.Leu589=
XM_017008249.1:c.1144C>T	XP_016863738.1:p.Leu382=
XM_017008251.1:c.1060C>T	XP_016863740.1:p.Leu354=
XM_017008252.2:c.1060C>T	XP_016863741.1:p.Leu354=
XM_017008253.1:c.613C>T	XP_016863742.1:p.Leu205=
XM_017008254.1:c.409C>T	XP_016863743.1:p.Leu137=
XM_024454065.1:c.1144C>T	XP_024309833.1:p.Leu382=
XR_001741233.1:n.2345C>T
XR_001741234.2:n.2158C>T
NM_001199397.3:c.1765C>T MANE Select	NP_001186326.1:p.Leu589=
NM_001199398.2:c.1633C>T	NP_001186327.1:p.Leu545=
NM_001199399.2:c.1474C>T	NP_001186328.1:p.Leu492=
NM_001199400.2:c.1549C>T	NP_001186329.1:p.Leu517=
NM_001374418.1:c.1765C>T	NP_001361347.1:p.Leu589=
NM_001374419.1:c.1681C>T	NP_001361348.1:p.Leu561=
NM_001374420.1:c.1630C>T	NP_001361349.1:p.Leu544=
NM_001374421.1:c.1555C>T	NP_001361350.1:p.Leu519=
NM_012224.3:c.1681C>T	NP_036356.1:p.Leu561=
NR_164630.1:n.2227C>T
NM_001199398.3:c.1633C>T	NP_001186327.1:p.Leu545=
NM_001199399.3:c.1474C>T	NP_001186328.1:p.Leu492=
NM_001199400.3:c.1549C>T	NP_001186329.1:p.Leu517=
NM_012224.4:c.1681C>T	NP_036356.1:p.Leu561=