Canonical Allele Identifier: CA390058227

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58512618C>T , CM000676.2:g.58512618C>T	GRCh38
NC_000014.8:g.58979336C>T , CM000676.1:g.58979336C>T	GRCh37
NC_000014.7:g.58049089C>T	NCBI36
NG_051335.2:g.90234C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.4420C>T MANE Select	NP_001316872.1:p.Gln1474Ter
ENST00000652326.2:c.4420C>T MANE Select	ENSP00000498929.1:p.Gln1474Ter
NM_001244189.1:c.4579C>T	NP_001231118.1:p.Gln1527Ter
NM_001244189.2:c.4579C>T	NP_001231118.1:p.Gln1527Ter
NM_001244190.1:c.4375C>T	NP_001231119.1:p.Gln1459Ter
NM_001244190.2:c.4375C>T	NP_001231119.1:p.Gln1459Ter
NM_001244191.1:c.4165C>T	NP_001231120.1:p.Gln1389Ter
NM_001244191.2:c.4165C>T	NP_001231120.1:p.Gln1389Ter
NM_001244192.1:c.4288C>T	NP_001231121.1:p.Gln1430Ter
NM_001244192.2:c.4288C>T	NP_001231121.1:p.Gln1430Ter
NM_001244193.1:c.4000C>T	NP_001231122.1:p.Gln1334Ter
NM_001244193.2:c.4000C>T	NP_001231122.1:p.Gln1334Ter
NM_001329943.2:c.4420C>T	NP_001316872.1:p.Gln1474Ter
NM_001329944.1:c.4420C>T	NP_001316873.1:p.Gln1474Ter
NM_001329944.2:c.4420C>T	NP_001316873.1:p.Gln1474Ter
NM_001329945.1:c.4165C>T	NP_001316874.1:p.Gln1389Ter
NM_001329945.2:c.4165C>T	NP_001316874.1:p.Gln1389Ter
NM_001329946.1:c.4420C>T	NP_001316875.1:p.Gln1474Ter
NM_001329946.2:c.4420C>T	NP_001316875.1:p.Gln1474Ter
NM_001329947.1:c.4288C>T	NP_001316876.1:p.Gln1430Ter
NM_001329947.2:c.4288C>T	NP_001316876.1:p.Gln1430Ter
NM_001364700.1:c.4165C>T	NP_001351629.1:p.Gln1389Ter
NM_001364701.1:c.4165C>T	NP_001351630.1:p.Gln1389Ter
NM_001364701.2:c.4165C>T	NP_001351630.1:p.Gln1389Ter
NM_014749.3:c.4192C>T	NP_055564.3:p.Gln1398Ter
NM_014749.4:c.4192C>T	NP_055564.3:p.Gln1398Ter
NM_014749.5:c.4192C>T	NP_055564.3:p.Gln1398Ter
ENST00000261244.9:c.4192C>T	ENSP00000261244.5:p.Gln1398Ter
ENST00000354386.10:c.4579C>T	ENSP00000346359.6:p.Gln1527Ter
ENST00000423743.7:c.4288C>T	ENSP00000399427.3:p.Gln1430Ter
ENST00000538571.6:n.4010C>T
ENST00000555397.1:c.466C>T	ENSP00000451356.1:p.Gln156Ter
ENST00000556134.5:c.4288C>T	ENSP00000452351.2:p.Gln1430Ter
ENST00000557392.1:n.236C>T
ENST00000619416.4:c.4375C>T	ENSP00000478083.1:p.Gln1459Ter
ENST00000619722.4:c.4165C>T	ENSP00000481936.1:p.Gln1389Ter
ENST00000619722.5:c.4165C>T	ENSP00000481936.1:p.Gln1389Ter
ENST00000650845.1:n.4885C>T
ENST00000650904.1:c.4339C>T	ENSP00000498606.1:p.Gln1447Ter
ENST00000651759.1:c.3470C>T	ENSP00000498415.1:n.3470C>T
ENST00000651852.1:c.1939C>T	ENSP00000498990.1:p.Gln647Ter
ENST00000651937.1:c.*2755C>T	ENSP00000498785.1:n.*2755C>T
ENST00000652414.1:c.2524C>T	ENSP00000498397.1:p.Gln842Ter
ENST00000652732.1:c.*3905C>T	ENSP00000498799.1:n.*3905C>T
XM_024449779.1:c.4543C>T	XP_024305547.1:p.Gln1515Ter
XM_024449780.1:c.4444C>T	XP_024305548.1:p.Gln1482Ter
XM_024449781.1:c.4543C>T	XP_024305549.1:p.Gln1515Ter
XM_024449782.1:c.4189C>T	XP_024305550.1:p.Gln1397Ter
XM_024449783.1:c.4189C>T	XP_024305551.1:p.Gln1397Ter
XM_024449784.1:c.4189C>T	XP_024305552.1:p.Gln1397Ter
XM_024449785.1:c.4165C>T	XP_024305553.1:p.Gln1389Ter
XM_024449787.1:c.4024C>T	XP_024305555.1:p.Gln1342Ter
XM_024449788.1:c.4000C>T	XP_024305556.1:p.Gln1334Ter
XM_024449789.1:c.4000C>T	XP_024305557.1:p.Gln1334Ter
XM_024449791.1:c.4444C>T	XP_024305559.1:p.Gln1482Ter