Canonical Allele Identifier: CA389885507

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58498819C>T , CM000676.2:g.58498819C>T	GRCh38
NC_000014.8:g.58965537C>T , CM000676.1:g.58965537C>T	GRCh37
NC_000014.7:g.58035290C>T	NCBI36
NG_051335.2:g.76435C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.4027C>T MANE Select	NP_001316872.1:p.Gln1343Ter
ENST00000652326.2:c.4027C>T MANE Select	ENSP00000498929.1:p.Gln1343Ter
NM_001244189.1:c.4186C>T	NP_001231118.1:p.Gln1396Ter
NM_001244189.2:c.4186C>T	NP_001231118.1:p.Gln1396Ter
NM_001244190.1:c.3982C>T	NP_001231119.1:p.Gln1328Ter
NM_001244190.2:c.3982C>T	NP_001231119.1:p.Gln1328Ter
NM_001244191.1:c.3772C>T	NP_001231120.1:p.Gln1258Ter
NM_001244191.2:c.3772C>T	NP_001231120.1:p.Gln1258Ter
NM_001244192.1:c.3895C>T	NP_001231121.1:p.Gln1299Ter
NM_001244192.2:c.3895C>T	NP_001231121.1:p.Gln1299Ter
NM_001244193.1:c.3607C>T	NP_001231122.1:p.Gln1203Ter
NM_001244193.2:c.3607C>T	NP_001231122.1:p.Gln1203Ter
NM_001329943.2:c.4027C>T	NP_001316872.1:p.Gln1343Ter
NM_001329944.1:c.4027C>T	NP_001316873.1:p.Gln1343Ter
NM_001329944.2:c.4027C>T	NP_001316873.1:p.Gln1343Ter
NM_001329945.1:c.3772C>T	NP_001316874.1:p.Gln1258Ter
NM_001329945.2:c.3772C>T	NP_001316874.1:p.Gln1258Ter
NM_001329946.1:c.4027C>T	NP_001316875.1:p.Gln1343Ter
NM_001329946.2:c.4027C>T	NP_001316875.1:p.Gln1343Ter
NM_001329947.1:c.3895C>T	NP_001316876.1:p.Gln1299Ter
NM_001329947.2:c.3895C>T	NP_001316876.1:p.Gln1299Ter
NM_001364700.1:c.3772C>T	NP_001351629.1:p.Gln1258Ter
NM_001364701.1:c.3772C>T	NP_001351630.1:p.Gln1258Ter
NM_001364701.2:c.3772C>T	NP_001351630.1:p.Gln1258Ter
NM_014749.3:c.3799C>T	NP_055564.3:p.Gln1267Ter
NM_014749.4:c.3799C>T	NP_055564.3:p.Gln1267Ter
NM_014749.5:c.3799C>T	NP_055564.3:p.Gln1267Ter
ENST00000261244.9:c.3799C>T	ENSP00000261244.5:p.Gln1267Ter
ENST00000354386.10:c.4186C>T	ENSP00000346359.6:p.Gln1396Ter
ENST00000423743.7:c.3895C>T	ENSP00000399427.3:p.Gln1299Ter
ENST00000538571.6:n.3617C>T
ENST00000555397.1:c.73C>T	ENSP00000451356.1:p.Gln25Ter
ENST00000556134.5:c.3895C>T	ENSP00000452351.2:p.Gln1299Ter
ENST00000619416.4:c.3982C>T	ENSP00000478083.1:p.Gln1328Ter
ENST00000619722.4:c.3772C>T	ENSP00000481936.1:p.Gln1258Ter
ENST00000619722.5:c.3772C>T	ENSP00000481936.1:p.Gln1258Ter
ENST00000650845.1:n.4492C>T
ENST00000650904.1:c.3946C>T	ENSP00000498606.1:p.Gln1316Ter
ENST00000651596.1:c.979C>T
ENST00000651759.1:c.2695C>T	ENSP00000498415.1:p.Gln899Ter
ENST00000651852.1:c.1546C>T	ENSP00000498990.1:p.Gln516Ter
ENST00000651937.1:c.*2362C>T	ENSP00000498785.1:n.*2362C>T
ENST00000652414.1:c.2131C>T	ENSP00000498397.1:p.Gln711Ter
ENST00000652732.1:c.*3512C>T	ENSP00000498799.1:n.*3512C>T
XM_024449779.1:c.4150C>T	XP_024305547.1:p.Gln1384Ter
XM_024449780.1:c.4051C>T	XP_024305548.1:p.Gln1351Ter
XM_024449781.1:c.4150C>T	XP_024305549.1:p.Gln1384Ter
XM_024449782.1:c.3796C>T	XP_024305550.1:p.Gln1266Ter
XM_024449783.1:c.3796C>T	XP_024305551.1:p.Gln1266Ter
XM_024449784.1:c.3796C>T	XP_024305552.1:p.Gln1266Ter
XM_024449785.1:c.3772C>T	XP_024305553.1:p.Gln1258Ter
XM_024449787.1:c.3631C>T	XP_024305555.1:p.Gln1211Ter
XM_024449788.1:c.3607C>T	XP_024305556.1:p.Gln1203Ter
XM_024449789.1:c.3607C>T	XP_024305557.1:p.Gln1203Ter
XM_024449791.1:c.4051C>T	XP_024305559.1:p.Gln1351Ter