Canonical Allele Identifier: CA358732134
Community Standard Title: NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter)
Gene: NEK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.169463291C>A , CM000666.2:g.169463291C>A GRCh38
NC_000004.11:g.170384442C>A , CM000666.1:g.170384442C>A GRCh37
NC_000004.10:g.170621017C>A NCBI36
NG_027982.1:g.154337G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001199397.3:c.2539G>T MANE Select NP_001186326.1:p.Glu847Ter
ENST00000507142.6:c.2539G>T MANE Select ENSP00000424757.2:p.Glu847Ter
NM_001199397.1:c.2539G>T NP_001186326.1:p.Glu847Ter
NM_001199398.1:c.2407G>T NP_001186327.1:p.Glu803Ter
NM_001199398.2:c.2407G>T NP_001186327.1:p.Glu803Ter
NM_001199398.3:c.2407G>T NP_001186327.1:p.Glu803Ter
NM_001199399.1:c.2248G>T NP_001186328.1:p.Glu750Ter
NM_001199399.2:c.2248G>T NP_001186328.1:p.Glu750Ter
NM_001199399.3:c.2248G>T NP_001186328.1:p.Glu750Ter
NM_001199400.1:c.2323G>T NP_001186329.1:p.Glu775Ter
NM_001199400.2:c.2323G>T NP_001186329.1:p.Glu775Ter
NM_001199400.3:c.2323G>T NP_001186329.1:p.Glu775Ter
NM_001374418.1:c.2539G>T NP_001361347.1:p.Glu847Ter
NM_001374419.1:c.2455G>T NP_001361348.1:p.Glu819Ter
NM_001374420.1:c.2404G>T NP_001361349.1:p.Glu802Ter
NM_001374421.1:c.2233G>T NP_001361350.1:p.Glu745Ter
NM_012224.2:c.2455G>T NP_036356.1:p.Glu819Ter
NM_012224.3:c.2455G>T NP_036356.1:p.Glu819Ter
NM_012224.4:c.2455G>T NP_036356.1:p.Glu819Ter
NR_164630.1:n.3001G>T
ENST00000439128.6:c.2455G>T ENSP00000408020.2:p.Glu819Ter
ENST00000507142.5:c.2539G>T ENSP00000424757.1:p.Glu847Ter
ENST00000510533.5:c.2323G>T ENSP00000427653.1:p.Glu775Ter
ENST00000511633.5:c.2407G>T ENSP00000423332.1:p.Glu803Ter
ENST00000512193.5:c.2248G>T ENSP00000424938.1:p.Glu750Ter
ENST00000638824.1:n.667G>T
ENST00000685111.1:c.2371G>T ENSP00000508844.1:p.Glu791Ter
ENST00000685677.1:n.1837G>T
ENST00000686697.1:c.2233G>T ENSP00000508689.1:p.Glu745Ter
ENST00000687054.1:n.3033G>T
ENST00000687528.1:c.*1274G>T ENSP00000510228.1:n.*1274G>T
ENST00000687643.1:c.2482G>T ENSP00000509309.1:p.Glu828Ter
ENST00000688934.1:c.562G>T ENSP00000510760.1:p.Glu188Ter
ENST00000690540.1:n.1989G>T
XM_006714228.1:c.2539G>T XP_006714291.1:p.Glu847Ter
XM_011532003.1:c.2455G>T XP_011530305.1:p.Glu819Ter
XM_011532004.1:c.2323G>T XP_011530306.1:p.Glu775Ter
XM_017008249.1:c.1918G>T XP_016863738.1:p.Glu640Ter
XM_017008251.1:c.1834G>T XP_016863740.1:p.Glu612Ter
XM_017008252.2:c.1834G>T XP_016863741.1:p.Glu612Ter
XM_017008253.1:c.1387G>T XP_016863742.1:p.Glu463Ter
XM_017008254.1:c.1183G>T XP_016863743.1:p.Glu395Ter
XM_024454065.1:c.1918G>T XP_024309833.1:p.Glu640Ter
XR_001741233.1:n.2824G>T
XR_001741234.2:n.3815G>T