Canonical Allele Identifier: CA2672641889

Gene: NEK1

Linked Data

• gnomAD v4: 4-169508225-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169508225A>G , CM000666.2:g.169508225A>G	GRCh38
NC_000004.11:g.170429376A>G , CM000666.1:g.170429376A>G	GRCh37
NC_000004.10:g.170665951A>G	NCBI36
NG_027982.1:g.109403T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.1665+23T>C	ENSP00000508844.1:n.1665+23T>C
ENST00000685677.1:n.1131+23T>C
ENST00000686697.1:c.1623+23T>C	ENSP00000508689.1:n.1623+23T>C
ENST00000687054.1:n.2327+23T>C
ENST00000687219.1:c.*1336+23T>C	ENSP00000509736.1:n.*1336+23T>C
ENST00000687528.1:c.1701+23T>C	ENSP00000510228.1:n.1701+23T>C
ENST00000687643.1:c.1776+23T>C	ENSP00000509309.1:n.1776+23T>C
ENST00000688934.1:c.-49+23T>C	ENSP00000510760.1:n.-49+23T>C
ENST00000689190.1:n.1719+23T>C
ENST00000692450.1:c.*1498+23T>C	ENSP00000510283.1:n.*1498+23T>C
ENST00000693085.1:c.*1576+23T>C	ENSP00000508746.1:n.*1576+23T>C
ENST00000693604.1:c.*767+23T>C	ENSP00000509917.1:n.*767+23T>C
ENST00000507142.6:c.1833+23T>C MANE Select	ENSP00000424757.2:n.1833+23T>C
ENST00000439128.6:c.1749+23T>C	ENSP00000408020.2:n.1749+23T>C
ENST00000507142.5:c.1833+23T>C	ENSP00000424757.1:n.1833+23T>C
ENST00000510533.5:c.1617+23T>C	ENSP00000427653.1:n.1617+23T>C
ENST00000511633.5:c.1701+23T>C	ENSP00000423332.1:n.1701+23T>C
ENST00000512193.5:c.1542+23T>C	ENSP00000424938.1:n.1542+23T>C
NM_001199397.1:c.1833+23T>C	NP_001186326.1:n.1833+23T>C
NM_001199398.1:c.1701+23T>C	NP_001186327.1:n.1701+23T>C
NM_001199399.1:c.1542+23T>C	NP_001186328.1:n.1542+23T>C
NM_001199400.1:c.1617+23T>C	NP_001186329.1:n.1617+23T>C
NM_012224.2:c.1749+23T>C	NP_036356.1:n.1749+23T>C
XM_006714228.1:c.1833+23T>C	XP_006714291.1:n.1833+23T>C
XM_011532003.1:c.1749+23T>C	XP_011530305.1:n.1749+23T>C
XM_011532004.1:c.1617+23T>C	XP_011530306.1:n.1617+23T>C
XM_011532005.1:c.1833+23T>C	XP_011530307.1:n.1833+23T>C
XM_011532005.2:c.1833+23T>C	XP_011530307.1:n.1833+23T>C
XM_017008249.1:c.1212+23T>C	XP_016863738.1:n.1212+23T>C
XM_017008251.1:c.1128+23T>C	XP_016863740.1:n.1128+23T>C
XM_017008252.2:c.1128+23T>C	XP_016863741.1:n.1128+23T>C
XM_017008253.1:c.681+23T>C	XP_016863742.1:n.681+23T>C
XM_017008254.1:c.477+23T>C	XP_016863743.1:n.477+23T>C
XM_024454065.1:c.1212+23T>C	XP_024309833.1:n.1212+23T>C
XR_001741233.1:n.2413+23T>C
XR_001741234.2:n.2226+23T>C
NM_001199397.3:c.1833+23T>C MANE Select	NP_001186326.1:n.1833+23T>C
NM_001199398.2:c.1701+23T>C	NP_001186327.1:n.1701+23T>C
NM_001199399.2:c.1542+23T>C	NP_001186328.1:n.1542+23T>C
NM_001199400.2:c.1617+23T>C	NP_001186329.1:n.1617+23T>C
NM_001374418.1:c.1833+23T>C	NP_001361347.1:n.1833+23T>C
NM_001374419.1:c.1749+23T>C	NP_001361348.1:n.1749+23T>C
NM_001374420.1:c.1698+23T>C	NP_001361349.1:n.1698+23T>C
NM_001374421.1:c.1623+23T>C	NP_001361350.1:n.1623+23T>C
NM_012224.3:c.1749+23T>C	NP_036356.1:n.1749+23T>C
NR_164630.1:n.2295+23T>C
NM_001199398.3:c.1701+23T>C	NP_001186327.1:n.1701+23T>C
NM_001199399.3:c.1542+23T>C	NP_001186328.1:n.1542+23T>C
NM_001199400.3:c.1617+23T>C	NP_001186329.1:n.1617+23T>C
NM_012224.4:c.1749+23T>C	NP_036356.1:n.1749+23T>C