Canonical Allele Identifier: CA7205761

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58461152G>A , CM000676.2:g.58461152G>A	GRCh38
NC_000014.8:g.58927870G>A , CM000676.1:g.58927870G>A	GRCh37
NC_000014.7:g.57997623G>A	NCBI36
NG_051335.2:g.38768G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.2051G>A MANE Select	NP_001316872.1:p.Arg684Gln
ENST00000652326.2:c.2051G>A MANE Select	ENSP00000498929.1:p.Arg684Gln
NM_001244189.1:c.2210G>A	NP_001231118.1:p.Arg737Gln
NM_001244189.2:c.2210G>A	NP_001231118.1:p.Arg737Gln
NM_001244190.1:c.2006G>A	NP_001231119.1:p.Arg669Gln
NM_001244190.2:c.2006G>A	NP_001231119.1:p.Arg669Gln
NM_001244191.1:c.1796G>A	NP_001231120.1:p.Arg599Gln
NM_001244191.2:c.1796G>A	NP_001231120.1:p.Arg599Gln
NM_001244192.1:c.1919G>A	NP_001231121.1:p.Arg640Gln
NM_001244192.2:c.1919G>A	NP_001231121.1:p.Arg640Gln
NM_001244193.1:c.1631G>A	NP_001231122.1:p.Arg544Gln
NM_001244193.2:c.1631G>A	NP_001231122.1:p.Arg544Gln
NM_001329943.2:c.2051G>A	NP_001316872.1:p.Arg684Gln
NM_001329944.1:c.2051G>A	NP_001316873.1:p.Arg684Gln
NM_001329944.2:c.2051G>A	NP_001316873.1:p.Arg684Gln
NM_001329945.1:c.1796G>A	NP_001316874.1:p.Arg599Gln
NM_001329945.2:c.1796G>A	NP_001316874.1:p.Arg599Gln
NM_001329946.1:c.2051G>A	NP_001316875.1:p.Arg684Gln
NM_001329946.2:c.2051G>A	NP_001316875.1:p.Arg684Gln
NM_001329947.1:c.2051G>A	NP_001316876.1:p.Arg684Gln
NM_001329947.2:c.2051G>A	NP_001316876.1:p.Arg684Gln
NM_001364700.1:c.1796G>A	NP_001351629.1:p.Arg599Gln
NM_001364701.1:c.1796G>A	NP_001351630.1:p.Arg599Gln
NM_001364701.2:c.1796G>A	NP_001351630.1:p.Arg599Gln
NM_014749.3:c.1823G>A	NP_055564.3:p.Arg608Gln
NM_014749.4:c.1823G>A	NP_055564.3:p.Arg608Gln
NM_014749.5:c.1823G>A	NP_055564.3:p.Arg608Gln
ENST00000261244.9:c.1823G>A	ENSP00000261244.5:p.Arg608Gln
ENST00000354386.10:c.2210G>A	ENSP00000346359.6:p.Arg737Gln
ENST00000423743.7:c.1919G>A	ENSP00000399427.3:p.Arg640Gln
ENST00000538571.6:n.1641G>A
ENST00000556134.5:c.1919G>A	ENSP00000452351.2:p.Arg640Gln
ENST00000619416.4:c.2006G>A	ENSP00000478083.1:p.Arg669Gln
ENST00000619722.4:c.1796G>A	ENSP00000481936.1:p.Arg599Gln
ENST00000619722.5:c.1796G>A	ENSP00000481936.1:p.Arg599Gln
ENST00000650845.1:n.2597G>A
ENST00000650904.1:c.2051G>A	ENSP00000498606.1:p.Arg684Gln
ENST00000651759.1:c.800G>A	ENSP00000498415.1:p.Arg267Gln
ENST00000651937.1:c.*132G>A	ENSP00000498785.1:n.*132G>A
ENST00000652414.1:c.155G>A	ENSP00000498397.1:p.Arg52Gln
ENST00000652732.1:c.*1617G>A	ENSP00000498799.1:n.*1617G>A
XM_024449779.1:c.2174G>A	XP_024305547.1:p.Arg725Gln
XM_024449780.1:c.2075G>A	XP_024305548.1:p.Arg692Gln
XM_024449781.1:c.2174G>A	XP_024305549.1:p.Arg725Gln
XM_024449782.1:c.1820G>A	XP_024305550.1:p.Arg607Gln
XM_024449783.1:c.1820G>A	XP_024305551.1:p.Arg607Gln
XM_024449784.1:c.1820G>A	XP_024305552.1:p.Arg607Gln
XM_024449785.1:c.1796G>A	XP_024305553.1:p.Arg599Gln
XM_024449787.1:c.1655G>A	XP_024305555.1:p.Arg552Gln
XM_024449788.1:c.1631G>A	XP_024305556.1:p.Arg544Gln
XM_024449789.1:c.1631G>A	XP_024305557.1:p.Arg544Gln
XM_024449791.1:c.2075G>A	XP_024305559.1:p.Arg692Gln