Canonical Allele Identifier: CA109930891

Gene: NEK1

Linked Data

• ClinVar Variation Id: 446672
• ClinVar RCV Id: RCV000515987 ; RCV000756417 ; RCV002464987 ; RCV003766906
• dbSNP Id: rs985064686
• gnomAD v2: 4-170482671-C-T
• gnomAD v3: 4-169561520-C-T
• gnomAD v4: 4-169561520-C-T
• MyVariant Identifiers: chr4:g.170482671C>T (hg19) ; chr4:g.169561520C>T (hg38)
• PubMed: PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169561520C>T , CM000666.2:g.169561520C>T	GRCh38
NC_000004.11:g.170482671C>T , CM000666.1:g.170482671C>T	GRCh37
NC_000004.10:g.170719246C>T	NCBI36
NG_027982.1:g.56108G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000685111.1:c.1142G>A	ENSP00000508844.1:p.Trp381Ter
ENST00000685677.1:n.524G>A
ENST00000686697.1:c.1140+312G>A	ENSP00000508689.1:n.1140+312G>A
ENST00000687054.1:n.1804G>A
ENST00000687219.1:c.*813G>A	ENSP00000509736.1:n.*813G>A
ENST00000687528.1:c.1226G>A	ENSP00000510228.1:p.Trp409Ter
ENST00000687643.1:c.1253G>A	ENSP00000509309.1:p.Trp418Ter
ENST00000688487.1:n.1589G>A
ENST00000688653.1:n.1803G>A
ENST00000688934.1:c.-133+50500G>A	ENSP00000510760.1:n.-133+50500G>A
ENST00000690631.1:n.1803G>A
ENST00000692218.1:n.1880G>A
ENST00000692450.1:c.*1023G>A	ENSP00000510283.1:n.*1023G>A
ENST00000692868.1:c.*809G>A	ENSP00000510531.1:n.*809G>A
ENST00000693085.1:c.*1053G>A	ENSP00000508746.1:n.*1053G>A
ENST00000693604.1:c.*194+312G>A	ENSP00000509917.1:n.*194+312G>A
ENST00000507142.6:c.1226G>A MANE Select	ENSP00000424757.2:p.Trp409Ter
ENST00000439128.6:c.1226G>A	ENSP00000408020.2:p.Trp409Ter
ENST00000507142.5:c.1226G>A	ENSP00000424757.1:p.Trp409Ter
ENST00000509912.5:n.958G>A
ENST00000510533.5:c.1226G>A	ENSP00000427653.1:p.Trp409Ter
ENST00000511633.5:c.1226G>A	ENSP00000423332.1:p.Trp409Ter
ENST00000512193.5:c.1191+167G>A	ENSP00000424938.1:n.1191+167G>A
NM_001199397.1:c.1226G>A	NP_001186326.1:p.Trp409Ter
NM_001199398.1:c.1226G>A	NP_001186327.1:p.Trp409Ter
NM_001199399.1:c.1191+167G>A	NP_001186328.1:n.1191+167G>A
NM_001199400.1:c.1226G>A	NP_001186329.1:p.Trp409Ter
NM_012224.2:c.1226G>A	NP_036356.1:p.Trp409Ter
XM_006714228.1:c.1226G>A	XP_006714291.1:p.Trp409Ter
XM_011532003.1:c.1226G>A	XP_011530305.1:p.Trp409Ter
XM_011532004.1:c.1226G>A	XP_011530306.1:p.Trp409Ter
XM_011532005.1:c.1226G>A	XP_011530307.1:p.Trp409Ter
XM_011532005.2:c.1226G>A	XP_011530307.1:p.Trp409Ter
XM_017008249.1:c.605G>A	XP_016863738.1:p.Trp202Ter
XM_017008251.1:c.605G>A	XP_016863740.1:p.Trp202Ter
XM_017008252.2:c.605G>A	XP_016863741.1:p.Trp202Ter
XM_017008253.1:c.74G>A	XP_016863742.1:p.Trp25Ter
XM_017008254.1:c.-281G>A	XP_016863743.1:n.-281G>A
XM_024454065.1:c.605G>A	XP_024309833.1:p.Trp202Ter
XR_001741233.1:n.1806G>A
XR_001741234.2:n.1751G>A
NM_001199397.3:c.1226G>A MANE Select	NP_001186326.1:p.Trp409Ter
NM_001199398.2:c.1226G>A	NP_001186327.1:p.Trp409Ter
NM_001199399.2:c.1191+167G>A	NP_001186328.1:n.1191+167G>A
NM_001199400.2:c.1226G>A	NP_001186329.1:p.Trp409Ter
NM_001374418.1:c.1226G>A	NP_001361347.1:p.Trp409Ter
NM_001374419.1:c.1226G>A	NP_001361348.1:p.Trp409Ter
NM_001374420.1:c.1175G>A	NP_001361349.1:p.Trp392Ter
NM_001374421.1:c.1140+312G>A	NP_001361350.1:n.1140+312G>A
NM_001374422.1:c.1226G>A	NP_001361351.1:p.Trp409Ter
NM_001374423.1:c.1226G>A	NP_001361352.1:p.Trp409Ter
NM_012224.3:c.1226G>A	NP_036356.1:p.Trp409Ter
NR_164630.1:n.1740G>A
NR_164631.1:n.1607G>A
NM_001199398.3:c.1226G>A	NP_001186327.1:p.Trp409Ter
NM_001199399.3:c.1191+167G>A	NP_001186328.1:n.1191+167G>A
NM_001199400.3:c.1226G>A	NP_001186329.1:p.Trp409Ter
NM_012224.4:c.1226G>A	NP_036356.1:p.Trp409Ter