Canonical Allele Identifier: CA389874918
Community Standard Title: NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)
Gene: KIAA0586 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58467737C>T , CM000676.2:g.58467737C>T GRCh38
NC_000014.8:g.58934455C>T , CM000676.1:g.58934455C>T GRCh37
NC_000014.7:g.58004208C>T NCBI36
NG_051335.2:g.45353C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001329943.3:c.2257C>T MANE Select NP_001316872.1:p.Gln753Ter
ENST00000652326.2:c.2257C>T MANE Select ENSP00000498929.1:p.Gln753Ter
NM_001244189.1:c.2416C>T NP_001231118.1:p.Gln806Ter
NM_001244189.2:c.2416C>T NP_001231118.1:p.Gln806Ter
NM_001244190.1:c.2212C>T NP_001231119.1:p.Gln738Ter
NM_001244190.2:c.2212C>T NP_001231119.1:p.Gln738Ter
NM_001244191.1:c.2002C>T NP_001231120.1:p.Gln668Ter
NM_001244191.2:c.2002C>T NP_001231120.1:p.Gln668Ter
NM_001244192.1:c.2125C>T NP_001231121.1:p.Gln709Ter
NM_001244192.2:c.2125C>T NP_001231121.1:p.Gln709Ter
NM_001244193.1:c.1837C>T NP_001231122.1:p.Gln613Ter
NM_001244193.2:c.1837C>T NP_001231122.1:p.Gln613Ter
NM_001329943.2:c.2257C>T NP_001316872.1:p.Gln753Ter
NM_001329944.1:c.2257C>T NP_001316873.1:p.Gln753Ter
NM_001329944.2:c.2257C>T NP_001316873.1:p.Gln753Ter
NM_001329945.1:c.2002C>T NP_001316874.1:p.Gln668Ter
NM_001329945.2:c.2002C>T NP_001316874.1:p.Gln668Ter
NM_001329946.1:c.2257C>T NP_001316875.1:p.Gln753Ter
NM_001329946.2:c.2257C>T NP_001316875.1:p.Gln753Ter
NM_001329947.1:c.2257C>T NP_001316876.1:p.Gln753Ter
NM_001329947.2:c.2257C>T NP_001316876.1:p.Gln753Ter
NM_001364700.1:c.2002C>T NP_001351629.1:p.Gln668Ter
NM_001364701.1:c.2002C>T NP_001351630.1:p.Gln668Ter
NM_001364701.2:c.2002C>T NP_001351630.1:p.Gln668Ter
NM_014749.3:c.2029C>T NP_055564.3:p.Gln677Ter
NM_014749.4:c.2029C>T NP_055564.3:p.Gln677Ter
NM_014749.5:c.2029C>T NP_055564.3:p.Gln677Ter
ENST00000261244.9:c.2029C>T ENSP00000261244.5:p.Gln677Ter
ENST00000354386.10:c.2416C>T ENSP00000346359.6:p.Gln806Ter
ENST00000423743.7:c.2125C>T ENSP00000399427.3:p.Gln709Ter
ENST00000538571.6:n.1847C>T
ENST00000556134.5:c.2125C>T ENSP00000452351.2:p.Gln709Ter
ENST00000619416.4:c.2212C>T ENSP00000478083.1:p.Gln738Ter
ENST00000619722.4:c.2002C>T ENSP00000481936.1:p.Gln668Ter
ENST00000619722.5:c.2002C>T ENSP00000481936.1:p.Gln668Ter
ENST00000650845.1:n.2803C>T
ENST00000650904.1:c.2257C>T ENSP00000498606.1:p.Gln753Ter
ENST00000651759.1:c.1006C>T ENSP00000498415.1:p.Gln336Ter
ENST00000651937.1:c.*338C>T ENSP00000498785.1:n.*338C>T
ENST00000652414.1:c.361C>T ENSP00000498397.1:p.Gln121Ter
ENST00000652732.1:c.*1823C>T ENSP00000498799.1:n.*1823C>T
XM_024449779.1:c.2380C>T XP_024305547.1:p.Gln794Ter
XM_024449780.1:c.2281C>T XP_024305548.1:p.Gln761Ter
XM_024449781.1:c.2380C>T XP_024305549.1:p.Gln794Ter
XM_024449782.1:c.2026C>T XP_024305550.1:p.Gln676Ter
XM_024449783.1:c.2026C>T XP_024305551.1:p.Gln676Ter
XM_024449784.1:c.2026C>T XP_024305552.1:p.Gln676Ter
XM_024449785.1:c.2002C>T XP_024305553.1:p.Gln668Ter
XM_024449787.1:c.1861C>T XP_024305555.1:p.Gln621Ter
XM_024449788.1:c.1837C>T XP_024305556.1:p.Gln613Ter
XM_024449789.1:c.1837C>T XP_024305557.1:p.Gln613Ter
XM_024449791.1:c.2281C>T XP_024305559.1:p.Gln761Ter