Canonical Allele Identifier: CA389872559
Community Standard Title: NM_001329943.3(KIAA0586):c.1957C>T (p.Gln653Ter)
Gene: KIAA0586 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58461058C>T , CM000676.2:g.58461058C>T GRCh38
NC_000014.8:g.58927776C>T , CM000676.1:g.58927776C>T GRCh37
NC_000014.7:g.57997529C>T NCBI36
NG_051335.2:g.38674C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001329943.3:c.1957C>T MANE Select NP_001316872.1:p.Gln653Ter
ENST00000652326.2:c.1957C>T MANE Select ENSP00000498929.1:p.Gln653Ter
NM_001244189.1:c.2116C>T NP_001231118.1:p.Gln706Ter
NM_001244189.2:c.2116C>T NP_001231118.1:p.Gln706Ter
NM_001244190.1:c.1912C>T NP_001231119.1:p.Gln638Ter
NM_001244190.2:c.1912C>T NP_001231119.1:p.Gln638Ter
NM_001244191.1:c.1702C>T NP_001231120.1:p.Gln568Ter
NM_001244191.2:c.1702C>T NP_001231120.1:p.Gln568Ter
NM_001244192.1:c.1825C>T NP_001231121.1:p.Gln609Ter
NM_001244192.2:c.1825C>T NP_001231121.1:p.Gln609Ter
NM_001244193.1:c.1537C>T NP_001231122.1:p.Gln513Ter
NM_001244193.2:c.1537C>T NP_001231122.1:p.Gln513Ter
NM_001329943.2:c.1957C>T NP_001316872.1:p.Gln653Ter
NM_001329944.1:c.1957C>T NP_001316873.1:p.Gln653Ter
NM_001329944.2:c.1957C>T NP_001316873.1:p.Gln653Ter
NM_001329945.1:c.1702C>T NP_001316874.1:p.Gln568Ter
NM_001329945.2:c.1702C>T NP_001316874.1:p.Gln568Ter
NM_001329946.1:c.1957C>T NP_001316875.1:p.Gln653Ter
NM_001329946.2:c.1957C>T NP_001316875.1:p.Gln653Ter
NM_001329947.1:c.1957C>T NP_001316876.1:p.Gln653Ter
NM_001329947.2:c.1957C>T NP_001316876.1:p.Gln653Ter
NM_001364700.1:c.1702C>T NP_001351629.1:p.Gln568Ter
NM_001364701.1:c.1702C>T NP_001351630.1:p.Gln568Ter
NM_001364701.2:c.1702C>T NP_001351630.1:p.Gln568Ter
NM_014749.3:c.1729C>T NP_055564.3:p.Gln577Ter
NM_014749.4:c.1729C>T NP_055564.3:p.Gln577Ter
NM_014749.5:c.1729C>T NP_055564.3:p.Gln577Ter
ENST00000261244.9:c.1729C>T ENSP00000261244.5:p.Gln577Ter
ENST00000354386.10:c.2116C>T ENSP00000346359.6:p.Gln706Ter
ENST00000423743.7:c.1825C>T ENSP00000399427.3:p.Gln609Ter
ENST00000538571.6:n.1547C>T
ENST00000556134.5:c.1825C>T ENSP00000452351.2:p.Gln609Ter
ENST00000619416.4:c.1912C>T ENSP00000478083.1:p.Gln638Ter
ENST00000619722.4:c.1702C>T ENSP00000481936.1:p.Gln568Ter
ENST00000619722.5:c.1702C>T ENSP00000481936.1:p.Gln568Ter
ENST00000650845.1:n.2503C>T
ENST00000650904.1:c.1957C>T ENSP00000498606.1:p.Gln653Ter
ENST00000651759.1:c.706C>T ENSP00000498415.1:p.Gln236Ter
ENST00000651937.1:c.*38C>T ENSP00000498785.1:n.*38C>T
ENST00000652414.1:c.61C>T ENSP00000498397.1:p.Gln21Ter
ENST00000652732.1:c.*1523C>T ENSP00000498799.1:n.*1523C>T
XM_024449779.1:c.2080C>T XP_024305547.1:p.Gln694Ter
XM_024449780.1:c.1981C>T XP_024305548.1:p.Gln661Ter
XM_024449781.1:c.2080C>T XP_024305549.1:p.Gln694Ter
XM_024449782.1:c.1726C>T XP_024305550.1:p.Gln576Ter
XM_024449783.1:c.1726C>T XP_024305551.1:p.Gln576Ter
XM_024449784.1:c.1726C>T XP_024305552.1:p.Gln576Ter
XM_024449785.1:c.1702C>T XP_024305553.1:p.Gln568Ter
XM_024449787.1:c.1561C>T XP_024305555.1:p.Gln521Ter
XM_024449788.1:c.1537C>T XP_024305556.1:p.Gln513Ter
XM_024449789.1:c.1537C>T XP_024305557.1:p.Gln513Ter
XM_024449791.1:c.1981C>T XP_024305559.1:p.Gln661Ter