Canonical Allele Identifier: CA358731932

Gene: NEK1

Linked Data

• dbSNP Id: rs1272762130
• gnomAD v2: 4-170429964-G-C
• gnomAD v4: 4-169508813-G-C
• MyVariant Identifiers: chr4:g.170429964G>C (hg19) ; chr4:g.169508813G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.169508813G>C , CM000666.2:g.169508813G>C	GRCh38
NC_000004.11:g.170429964G>C , CM000666.1:g.170429964G>C	GRCh37
NC_000004.10:g.170666539G>C	NCBI36
NG_027982.1:g.108815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685111.1:c.1582-482C>G	ENSP00000508844.1:n.1582-482C>G
ENST00000685677.1:n.1003C>G
ENST00000686697.1:c.1540-482C>G	ENSP00000508689.1:n.1540-482C>G
ENST00000687054.1:n.2244-482C>G
ENST00000687219.1:c.*1253-482C>G	ENSP00000509736.1:n.*1253-482C>G
ENST00000687528.1:c.1573C>G	ENSP00000510228.1:p.Pro525Ala
ENST00000687643.1:c.1693-482C>G	ENSP00000509309.1:n.1693-482C>G
ENST00000688934.1:c.-132-482C>G	ENSP00000510760.1:n.-132-482C>G
ENST00000689190.1:n.1154C>G
ENST00000692450.1:c.*1370C>G	ENSP00000510283.1:n.*1370C>G
ENST00000693085.1:c.*1493-482C>G	ENSP00000508746.1:n.*1493-482C>G
ENST00000693604.1:c.*684-482C>G	ENSP00000509917.1:n.*684-482C>G
ENST00000507142.6:c.1705C>G MANE Select	ENSP00000424757.2:p.Pro569Ala
ENST00000439128.6:c.1666-482C>G	ENSP00000408020.2:n.1666-482C>G
ENST00000507142.5:c.1705C>G	ENSP00000424757.1:p.Pro569Ala
ENST00000510533.5:c.1534-482C>G	ENSP00000427653.1:n.1534-482C>G
ENST00000511633.5:c.1573C>G	ENSP00000423332.1:p.Pro525Ala
ENST00000512193.5:c.1459-482C>G	ENSP00000424938.1:n.1459-482C>G
NM_001199397.1:c.1705C>G	NP_001186326.1:p.Pro569Ala
NM_001199398.1:c.1573C>G	NP_001186327.1:p.Pro525Ala
NM_001199399.1:c.1459-482C>G	NP_001186328.1:n.1459-482C>G
NM_001199400.1:c.1534-482C>G	NP_001186329.1:n.1534-482C>G
NM_012224.2:c.1666-482C>G	NP_036356.1:n.1666-482C>G
XM_006714228.1:c.1705C>G	XP_006714291.1:p.Pro569Ala
XM_011532003.1:c.1666-482C>G	XP_011530305.1:n.1666-482C>G
XM_011532004.1:c.1534-482C>G	XP_011530306.1:n.1534-482C>G
XM_011532005.1:c.1705C>G	XP_011530307.1:p.Pro569Ala
XM_011532005.2:c.1705C>G	XP_011530307.1:p.Pro569Ala
XM_017008249.1:c.1084C>G	XP_016863738.1:p.Pro362Ala
XM_017008251.1:c.1045-482C>G	XP_016863740.1:n.1045-482C>G
XM_017008252.2:c.1045-482C>G	XP_016863741.1:n.1045-482C>G
XM_017008253.1:c.553C>G	XP_016863742.1:p.Pro185Ala
XM_017008254.1:c.349C>G	XP_016863743.1:p.Pro117Ala
XM_024454065.1:c.1084C>G	XP_024309833.1:p.Pro362Ala
XR_001741233.1:n.2285C>G
XR_001741234.2:n.2098C>G
NM_001199397.3:c.1705C>G MANE Select	NP_001186326.1:p.Pro569Ala
NM_001199398.2:c.1573C>G	NP_001186327.1:p.Pro525Ala
NM_001199399.2:c.1459-482C>G	NP_001186328.1:n.1459-482C>G
NM_001199400.2:c.1534-482C>G	NP_001186329.1:n.1534-482C>G
NM_001374418.1:c.1705C>G	NP_001361347.1:p.Pro569Ala
NM_001374419.1:c.1666-482C>G	NP_001361348.1:n.1666-482C>G
NM_001374420.1:c.1615-482C>G	NP_001361349.1:n.1615-482C>G
NM_001374421.1:c.1540-482C>G	NP_001361350.1:n.1540-482C>G
NM_012224.3:c.1666-482C>G	NP_036356.1:n.1666-482C>G
NR_164630.1:n.2212-482C>G
NM_001199398.3:c.1573C>G	NP_001186327.1:p.Pro525Ala
NM_001199399.3:c.1459-482C>G	NP_001186328.1:n.1459-482C>G
NM_001199400.3:c.1534-482C>G	NP_001186329.1:n.1534-482C>G
NM_012224.4:c.1666-482C>G	NP_036356.1:n.1666-482C>G