Canonical Allele Identifier: CA390058920
Community Standard Title: NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter)
Gene: KIAA0586 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58540097C>T , CM000676.2:g.58540097C>T GRCh38
NC_000014.8:g.59006815C>T , CM000676.1:g.59006815C>T GRCh37
NC_000014.7:g.58076568C>T NCBI36
NG_051335.2:g.117713C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001329943.3:c.4456C>T MANE Select NP_001316872.1:p.Gln1486Ter
ENST00000652326.2:c.4456C>T MANE Select ENSP00000498929.1:p.Gln1486Ter
NM_001244189.1:c.4615C>T NP_001231118.1:p.Gln1539Ter
NM_001244189.2:c.4615C>T NP_001231118.1:p.Gln1539Ter
NM_001244190.1:c.4411C>T NP_001231119.1:p.Gln1471Ter
NM_001244190.2:c.4411C>T NP_001231119.1:p.Gln1471Ter
NM_001244191.1:c.4201C>T NP_001231120.1:p.Gln1401Ter
NM_001244191.2:c.4201C>T NP_001231120.1:p.Gln1401Ter
NM_001244192.1:c.4324C>T NP_001231121.1:p.Gln1442Ter
NM_001244192.2:c.4324C>T NP_001231121.1:p.Gln1442Ter
NM_001329943.2:c.4456C>T NP_001316872.1:p.Gln1486Ter
NM_001329944.1:c.4456C>T NP_001316873.1:p.Gln1486Ter
NM_001329944.2:c.4456C>T NP_001316873.1:p.Gln1486Ter
NM_001329945.1:c.4175-7684C>T NP_001316874.1:n.4175-7684C>T
NM_001329945.2:c.4175-7684C>T NP_001316874.1:n.4175-7684C>T
NM_001329946.1:c.4430-7684C>T NP_001316875.1:n.4430-7684C>T
NM_001329946.2:c.4430-7684C>T NP_001316875.1:n.4430-7684C>T
NM_001329947.1:c.4324C>T NP_001316876.1:p.Gln1442Ter
NM_001329947.2:c.4324C>T NP_001316876.1:p.Gln1442Ter
NM_001364701.1:c.4201C>T NP_001351630.1:p.Gln1401Ter
NM_001364701.2:c.4201C>T NP_001351630.1:p.Gln1401Ter
NM_014749.3:c.4228C>T NP_055564.3:p.Gln1410Ter
NM_014749.4:c.4228C>T NP_055564.3:p.Gln1410Ter
NM_014749.5:c.4228C>T NP_055564.3:p.Gln1410Ter
ENST00000261244.9:c.4228C>T ENSP00000261244.5:p.Gln1410Ter
ENST00000354386.10:c.4615C>T ENSP00000346359.6:p.Gln1539Ter
ENST00000423743.7:c.4324C>T ENSP00000399427.3:p.Gln1442Ter
ENST00000555397.1:c.476-7684C>T ENSP00000451356.1:n.476-7684C>T
ENST00000556134.5:c.4324C>T ENSP00000452351.2:p.Gln1442Ter
ENST00000556235.1:n.231C>T
ENST00000619416.4:c.4411C>T ENSP00000478083.1:p.Gln1471Ter
ENST00000619722.4:c.4201C>T ENSP00000481936.1:p.Gln1401Ter
ENST00000619722.5:c.4201C>T ENSP00000481936.1:p.Gln1401Ter
ENST00000650904.1:c.4375C>T ENSP00000498606.1:p.Gln1459Ter
ENST00000651852.1:c.2100-7684C>T ENSP00000498990.1:n.2100-7684C>T
ENST00000651937.1:c.*2791C>T ENSP00000498785.1:n.*2791C>T
XM_024449779.1:c.4579C>T XP_024305547.1:p.Gln1527Ter
XM_024449780.1:c.4480C>T XP_024305548.1:p.Gln1494Ter
XM_024449781.1:c.4579C>T XP_024305549.1:p.Gln1527Ter
XM_024449782.1:c.4225C>T XP_024305550.1:p.Gln1409Ter
XM_024449783.1:c.4225C>T XP_024305551.1:p.Gln1409Ter
XM_024449784.1:c.4225C>T XP_024305552.1:p.Gln1409Ter
XM_024449785.1:c.4201C>T XP_024305553.1:p.Gln1401Ter
XM_024449787.1:c.4060C>T XP_024305555.1:p.Gln1354Ter
XM_024449788.1:c.4036C>T XP_024305556.1:p.Gln1346Ter
XM_024449789.1:c.4036C>T XP_024305557.1:p.Gln1346Ter
XM_024449791.1:c.4454-7684C>T XP_024305559.1:n.4454-7684C>T