Canonical Allele Identifier: CA389885471

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58498804G>T , CM000676.2:g.58498804G>T	GRCh38
NC_000014.8:g.58965522G>T , CM000676.1:g.58965522G>T	GRCh37
NC_000014.7:g.58035275G>T	NCBI36
NG_051335.2:g.76420G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.4012G>T MANE Select	NP_001316872.1:p.Glu1338Ter
ENST00000652326.2:c.4012G>T MANE Select	ENSP00000498929.1:p.Glu1338Ter
NM_001244189.1:c.4171G>T	NP_001231118.1:p.Glu1391Ter
NM_001244189.2:c.4171G>T	NP_001231118.1:p.Glu1391Ter
NM_001244190.1:c.3967G>T	NP_001231119.1:p.Glu1323Ter
NM_001244190.2:c.3967G>T	NP_001231119.1:p.Glu1323Ter
NM_001244191.1:c.3757G>T	NP_001231120.1:p.Glu1253Ter
NM_001244191.2:c.3757G>T	NP_001231120.1:p.Glu1253Ter
NM_001244192.1:c.3880G>T	NP_001231121.1:p.Glu1294Ter
NM_001244192.2:c.3880G>T	NP_001231121.1:p.Glu1294Ter
NM_001244193.1:c.3592G>T	NP_001231122.1:p.Glu1198Ter
NM_001244193.2:c.3592G>T	NP_001231122.1:p.Glu1198Ter
NM_001329943.2:c.4012G>T	NP_001316872.1:p.Glu1338Ter
NM_001329944.1:c.4012G>T	NP_001316873.1:p.Glu1338Ter
NM_001329944.2:c.4012G>T	NP_001316873.1:p.Glu1338Ter
NM_001329945.1:c.3757G>T	NP_001316874.1:p.Glu1253Ter
NM_001329945.2:c.3757G>T	NP_001316874.1:p.Glu1253Ter
NM_001329946.1:c.4012G>T	NP_001316875.1:p.Glu1338Ter
NM_001329946.2:c.4012G>T	NP_001316875.1:p.Glu1338Ter
NM_001329947.1:c.3880G>T	NP_001316876.1:p.Glu1294Ter
NM_001329947.2:c.3880G>T	NP_001316876.1:p.Glu1294Ter
NM_001364700.1:c.3757G>T	NP_001351629.1:p.Glu1253Ter
NM_001364701.1:c.3757G>T	NP_001351630.1:p.Glu1253Ter
NM_001364701.2:c.3757G>T	NP_001351630.1:p.Glu1253Ter
NM_014749.3:c.3784G>T	NP_055564.3:p.Glu1262Ter
NM_014749.4:c.3784G>T	NP_055564.3:p.Glu1262Ter
NM_014749.5:c.3784G>T	NP_055564.3:p.Glu1262Ter
ENST00000261244.9:c.3784G>T	ENSP00000261244.5:p.Glu1262Ter
ENST00000354386.10:c.4171G>T	ENSP00000346359.6:p.Glu1391Ter
ENST00000423743.7:c.3880G>T	ENSP00000399427.3:p.Glu1294Ter
ENST00000538571.6:n.3602G>T
ENST00000555397.1:c.58G>T	ENSP00000451356.1:p.Glu20Ter
ENST00000556134.5:c.3880G>T	ENSP00000452351.2:p.Glu1294Ter
ENST00000619416.4:c.3967G>T	ENSP00000478083.1:p.Glu1323Ter
ENST00000619722.4:c.3757G>T	ENSP00000481936.1:p.Glu1253Ter
ENST00000619722.5:c.3757G>T	ENSP00000481936.1:p.Glu1253Ter
ENST00000650845.1:n.4477G>T
ENST00000650904.1:c.3931G>T	ENSP00000498606.1:p.Glu1311Ter
ENST00000651596.1:c.964G>T
ENST00000651759.1:c.2680G>T	ENSP00000498415.1:p.Glu894Ter
ENST00000651852.1:c.1531G>T	ENSP00000498990.1:p.Glu511Ter
ENST00000651937.1:c.*2347G>T	ENSP00000498785.1:n.*2347G>T
ENST00000652414.1:c.2116G>T	ENSP00000498397.1:p.Glu706Ter
ENST00000652732.1:c.*3497G>T	ENSP00000498799.1:n.*3497G>T
XM_024449779.1:c.4135G>T	XP_024305547.1:p.Glu1379Ter
XM_024449780.1:c.4036G>T	XP_024305548.1:p.Glu1346Ter
XM_024449781.1:c.4135G>T	XP_024305549.1:p.Glu1379Ter
XM_024449782.1:c.3781G>T	XP_024305550.1:p.Glu1261Ter
XM_024449783.1:c.3781G>T	XP_024305551.1:p.Glu1261Ter
XM_024449784.1:c.3781G>T	XP_024305552.1:p.Glu1261Ter
XM_024449785.1:c.3757G>T	XP_024305553.1:p.Glu1253Ter
XM_024449787.1:c.3616G>T	XP_024305555.1:p.Glu1206Ter
XM_024449788.1:c.3592G>T	XP_024305556.1:p.Glu1198Ter
XM_024449789.1:c.3592G>T	XP_024305557.1:p.Glu1198Ter
XM_024449791.1:c.4036G>T	XP_024305559.1:p.Glu1346Ter