Canonical Allele Identifier: CA442293165

Gene: NEK1

Linked Data

• MyVariant Identifiers: chr4:g.170429471T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169508320T>G , CM000666.2:g.169508320T>G	GRCh38
NC_000004.11:g.170429471T>G , CM000666.1:g.170429471T>G	GRCh37
NC_000004.10:g.170666046T>G	NCBI36
NG_027982.1:g.109308A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.1593A>C	ENSP00000508844.1:p.Ala531=
ENST00000685677.1:n.1059A>C
ENST00000686697.1:c.1551A>C	ENSP00000508689.1:p.Ala517=
ENST00000687054.1:n.2255A>C
ENST00000687219.1:c.*1264A>C	ENSP00000509736.1:n.*1264A>C
ENST00000687528.1:c.1629A>C	ENSP00000510228.1:p.Ala543=
ENST00000687643.1:c.1704A>C	ENSP00000509309.1:p.Ala568=
ENST00000688934.1:c.-121A>C	ENSP00000510760.1:n.-121A>C
ENST00000689190.1:n.1647A>C
ENST00000692450.1:c.*1426A>C	ENSP00000510283.1:n.*1426A>C
ENST00000693085.1:c.*1504A>C	ENSP00000508746.1:n.*1504A>C
ENST00000693604.1:c.*695A>C	ENSP00000509917.1:n.*695A>C
ENST00000507142.6:c.1761A>C MANE Select	ENSP00000424757.2:p.Ala587=
ENST00000439128.6:c.1677A>C	ENSP00000408020.2:p.Ala559=
ENST00000507142.5:c.1761A>C	ENSP00000424757.1:p.Ala587=
ENST00000510533.5:c.1545A>C	ENSP00000427653.1:p.Ala515=
ENST00000511633.5:c.1629A>C	ENSP00000423332.1:p.Ala543=
ENST00000512193.5:c.1470A>C	ENSP00000424938.1:p.Ala490=
NM_001199397.1:c.1761A>C	NP_001186326.1:p.Ala587=
NM_001199398.1:c.1629A>C	NP_001186327.1:p.Ala543=
NM_001199399.1:c.1470A>C	NP_001186328.1:p.Ala490=
NM_001199400.1:c.1545A>C	NP_001186329.1:p.Ala515=
NM_012224.2:c.1677A>C	NP_036356.1:p.Ala559=
XM_006714228.1:c.1761A>C	XP_006714291.1:p.Ala587=
XM_011532003.1:c.1677A>C	XP_011530305.1:p.Ala559=
XM_011532004.1:c.1545A>C	XP_011530306.1:p.Ala515=
XM_011532005.1:c.1761A>C	XP_011530307.1:p.Ala587=
XM_011532005.2:c.1761A>C	XP_011530307.1:p.Ala587=
XM_017008249.1:c.1140A>C	XP_016863738.1:p.Ala380=
XM_017008251.1:c.1056A>C	XP_016863740.1:p.Ala352=
XM_017008252.2:c.1056A>C	XP_016863741.1:p.Ala352=
XM_017008253.1:c.609A>C	XP_016863742.1:p.Ala203=
XM_017008254.1:c.405A>C	XP_016863743.1:p.Ala135=
XM_024454065.1:c.1140A>C	XP_024309833.1:p.Ala380=
XR_001741233.1:n.2341A>C
XR_001741234.2:n.2154A>C
NM_001199397.3:c.1761A>C MANE Select	NP_001186326.1:p.Ala587=
NM_001199398.2:c.1629A>C	NP_001186327.1:p.Ala543=
NM_001199399.2:c.1470A>C	NP_001186328.1:p.Ala490=
NM_001199400.2:c.1545A>C	NP_001186329.1:p.Ala515=
NM_001374418.1:c.1761A>C	NP_001361347.1:p.Ala587=
NM_001374419.1:c.1677A>C	NP_001361348.1:p.Ala559=
NM_001374420.1:c.1626A>C	NP_001361349.1:p.Ala542=
NM_001374421.1:c.1551A>C	NP_001361350.1:p.Ala517=
NM_012224.3:c.1677A>C	NP_036356.1:p.Ala559=
NR_164630.1:n.2223A>C
NM_001199398.3:c.1629A>C	NP_001186327.1:p.Ala543=
NM_001199399.3:c.1470A>C	NP_001186328.1:p.Ala490=
NM_001199400.3:c.1545A>C	NP_001186329.1:p.Ala515=
NM_012224.4:c.1677A>C	NP_036356.1:p.Ala559=