Canonical Allele Identifier: CA3137285
Community Standard Title: NM_001199397.3(NEK1):c.2888C>T (p.Ser963Leu)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169426232G>A , CM000666.2:g.169426232G>A GRCh38
NC_000004.11:g.170347383G>A , CM000666.1:g.170347383G>A GRCh37
NC_000004.10:g.170583958G>A NCBI36
NG_027982.1:g.191396C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.2888C>T MANE Select NP_001186326.1:p.Ser963Leu
ENST00000507142.6:c.2888C>T MANE Select ENSP00000424757.2:p.Ser963Leu
NM_001199397.1:c.2888C>T NP_001186326.1:p.Ser963Leu
NM_001199398.1:c.2756C>T NP_001186327.1:p.Ser919Leu
NM_001199398.2:c.2756C>T NP_001186327.1:p.Ser919Leu
NM_001199398.3:c.2756C>T NP_001186327.1:p.Ser919Leu
NM_001199399.1:c.2597C>T NP_001186328.1:p.Ser866Leu
NM_001199399.2:c.2597C>T NP_001186328.1:p.Ser866Leu
NM_001199399.3:c.2597C>T NP_001186328.1:p.Ser866Leu
NM_001199400.1:c.2672C>T NP_001186329.1:p.Ser891Leu
NM_001199400.2:c.2672C>T NP_001186329.1:p.Ser891Leu
NM_001199400.3:c.2672C>T NP_001186329.1:p.Ser891Leu
NM_001374418.1:c.2888C>T NP_001361347.1:p.Ser963Leu
NM_001374419.1:c.2804C>T NP_001361348.1:p.Ser935Leu
NM_001374420.1:c.2753C>T NP_001361349.1:p.Ser918Leu
NM_001374421.1:c.2405C>T NP_001361350.1:p.Ser802Leu
NM_012224.2:c.2804C>T NP_036356.1:p.Ser935Leu
NM_012224.3:c.2804C>T NP_036356.1:p.Ser935Leu
NM_012224.4:c.2804C>T NP_036356.1:p.Ser935Leu
NR_164630.1:n.3350C>T
ENST00000439128.6:c.2804C>T ENSP00000408020.2:p.Ser935Leu
ENST00000507142.5:c.2888C>T ENSP00000424757.1:p.Ser963Leu
ENST00000510533.5:c.2672C>T ENSP00000427653.1:p.Ser891Leu
ENST00000511633.5:c.2756C>T ENSP00000423332.1:p.Ser919Leu
ENST00000512193.5:c.2597C>T ENSP00000424938.1:p.Ser866Leu
ENST00000638824.1:n.1016C>T
ENST00000685111.1:c.2720C>T ENSP00000508844.1:p.Ser907Leu
ENST00000685677.1:n.2186C>T
ENST00000686697.1:c.2405C>T ENSP00000508689.1:p.Ser802Leu
ENST00000687054.1:n.3382C>T
ENST00000687528.1:c.*1623C>T ENSP00000510228.1:n.*1623C>T
ENST00000687643.1:c.2831C>T ENSP00000509309.1:p.Ser944Leu
ENST00000688934.1:c.911C>T ENSP00000510760.1:p.Ser304Leu
ENST00000690540.1:n.2338C>T
XM_006714228.1:c.2711C>T XP_006714291.1:p.Ser904Leu
XM_011532003.1:c.2804C>T XP_011530305.1:p.Ser935Leu
XM_011532004.1:c.2672C>T XP_011530306.1:p.Ser891Leu
XM_017008249.1:c.2267C>T XP_016863738.1:p.Ser756Leu
XM_017008251.1:c.2183C>T XP_016863740.1:p.Ser728Leu
XM_017008252.2:c.2183C>T XP_016863741.1:p.Ser728Leu
XM_017008253.1:c.1736C>T XP_016863742.1:p.Ser579Leu
XM_017008254.1:c.1532C>T XP_016863743.1:p.Ser511Leu
XM_024454065.1:c.2267C>T XP_024309833.1:p.Ser756Leu
XR_001741233.1:n.3173C>T