Canonical Allele Identifier: CA7206196

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58488646G>A , CM000676.2:g.58488646G>A	GRCh38
NC_000014.8:g.58955364G>A , CM000676.1:g.58955364G>A	GRCh37
NC_000014.7:g.58025117G>A	NCBI36
NG_051335.2:g.66262G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.3553G>A MANE Select	NP_001316872.1:p.Glu1185Lys
ENST00000652326.2:c.3553G>A MANE Select	ENSP00000498929.1:p.Glu1185Lys
NM_001244189.1:c.3712G>A	NP_001231118.1:p.Glu1238Lys
NM_001244189.2:c.3712G>A	NP_001231118.1:p.Glu1238Lys
NM_001244190.1:c.3508G>A	NP_001231119.1:p.Glu1170Lys
NM_001244190.2:c.3508G>A	NP_001231119.1:p.Glu1170Lys
NM_001244191.1:c.3298G>A	NP_001231120.1:p.Glu1100Lys
NM_001244191.2:c.3298G>A	NP_001231120.1:p.Glu1100Lys
NM_001244192.1:c.3421G>A	NP_001231121.1:p.Glu1141Lys
NM_001244192.2:c.3421G>A	NP_001231121.1:p.Glu1141Lys
NM_001244193.1:c.3133G>A	NP_001231122.1:p.Glu1045Lys
NM_001244193.2:c.3133G>A	NP_001231122.1:p.Glu1045Lys
NM_001329943.2:c.3553G>A	NP_001316872.1:p.Glu1185Lys
NM_001329944.1:c.3553G>A	NP_001316873.1:p.Glu1185Lys
NM_001329944.2:c.3553G>A	NP_001316873.1:p.Glu1185Lys
NM_001329945.1:c.3298G>A	NP_001316874.1:p.Glu1100Lys
NM_001329945.2:c.3298G>A	NP_001316874.1:p.Glu1100Lys
NM_001329946.1:c.3553G>A	NP_001316875.1:p.Glu1185Lys
NM_001329946.2:c.3553G>A	NP_001316875.1:p.Glu1185Lys
NM_001329947.1:c.3553G>A	NP_001316876.1:p.Glu1185Lys
NM_001329947.2:c.3553G>A	NP_001316876.1:p.Glu1185Lys
NM_001364700.1:c.3298G>A	NP_001351629.1:p.Glu1100Lys
NM_001364701.1:c.3298G>A	NP_001351630.1:p.Glu1100Lys
NM_001364701.2:c.3298G>A	NP_001351630.1:p.Glu1100Lys
NM_014749.3:c.3325G>A	NP_055564.3:p.Glu1109Lys
NM_014749.4:c.3325G>A	NP_055564.3:p.Glu1109Lys
NM_014749.5:c.3325G>A	NP_055564.3:p.Glu1109Lys
ENST00000261244.9:c.3325G>A	ENSP00000261244.5:p.Glu1109Lys
ENST00000354386.10:c.3712G>A	ENSP00000346359.6:p.Glu1238Lys
ENST00000423743.7:c.3421G>A	ENSP00000399427.3:p.Glu1141Lys
ENST00000538571.6:n.3143G>A
ENST00000556134.5:c.3421G>A	ENSP00000452351.2:p.Glu1141Lys
ENST00000619416.4:c.3508G>A	ENSP00000478083.1:p.Glu1170Lys
ENST00000619722.4:c.3298G>A	ENSP00000481936.1:p.Glu1100Lys
ENST00000619722.5:c.3298G>A	ENSP00000481936.1:p.Glu1100Lys
ENST00000650845.1:n.4018G>A
ENST00000650904.1:c.3472G>A	ENSP00000498606.1:p.Glu1158Lys
ENST00000651596.1:c.303G>A
ENST00000651759.1:c.2221G>A	ENSP00000498415.1:p.Glu741Lys
ENST00000651852.1:c.1072G>A	ENSP00000498990.1:p.Glu358Lys
ENST00000651937.1:c.*1756G>A	ENSP00000498785.1:n.*1756G>A
ENST00000652414.1:c.1657G>A	ENSP00000498397.1:p.Glu553Lys
ENST00000652732.1:c.*3038G>A	ENSP00000498799.1:n.*3038G>A
XM_024449779.1:c.3676G>A	XP_024305547.1:p.Glu1226Lys
XM_024449780.1:c.3577G>A	XP_024305548.1:p.Glu1193Lys
XM_024449781.1:c.3676G>A	XP_024305549.1:p.Glu1226Lys
XM_024449782.1:c.3322G>A	XP_024305550.1:p.Glu1108Lys
XM_024449783.1:c.3322G>A	XP_024305551.1:p.Glu1108Lys
XM_024449784.1:c.3322G>A	XP_024305552.1:p.Glu1108Lys
XM_024449785.1:c.3298G>A	XP_024305553.1:p.Glu1100Lys
XM_024449787.1:c.3157G>A	XP_024305555.1:p.Glu1053Lys
XM_024449788.1:c.3133G>A	XP_024305556.1:p.Glu1045Lys
XM_024449789.1:c.3133G>A	XP_024305557.1:p.Glu1045Lys
XM_024449791.1:c.3577G>A	XP_024305559.1:p.Glu1193Lys