Canonical Allele Identifier: CA7206440

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58547804G>A , CM000676.2:g.58547804G>A	GRCh38
NC_000014.8:g.59014522G>A , CM000676.1:g.59014522G>A	GRCh37
NC_000014.7:g.58084275G>A	NCBI36
NG_051335.2:g.125420G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.4519G>A MANE Select	NP_001316872.1:p.Ala1507Thr
ENST00000652326.2:c.4519G>A MANE Select	ENSP00000498929.1:p.Ala1507Thr
NM_001244189.1:c.4763G>A	NP_001231118.1:p.Arg1588His
NM_001244189.2:c.4763G>A	NP_001231118.1:p.Arg1588His
NM_001244190.1:c.4474G>A	NP_001231119.1:p.Ala1492Thr
NM_001244190.2:c.4474G>A	NP_001231119.1:p.Ala1492Thr
NM_001244191.1:c.4264G>A	NP_001231120.1:p.Ala1422Thr
NM_001244191.2:c.4264G>A	NP_001231120.1:p.Ala1422Thr
NM_001244192.1:c.4387G>A	NP_001231121.1:p.Ala1463Thr
NM_001244192.2:c.4387G>A	NP_001231121.1:p.Ala1463Thr
NM_001329943.2:c.4519G>A	NP_001316872.1:p.Ala1507Thr
NM_001329944.1:c.4604G>A	NP_001316873.1:p.Arg1535His
NM_001329944.2:c.4604G>A	NP_001316873.1:p.Arg1535His
NM_001329945.1:c.4198G>A	NP_001316874.1:p.Ala1400Thr
NM_001329945.2:c.4198G>A	NP_001316874.1:p.Ala1400Thr
NM_001329946.1:c.4453G>A	NP_001316875.1:p.Ala1485Thr
NM_001329946.2:c.4453G>A	NP_001316875.1:p.Ala1485Thr
NM_001329947.1:c.4387G>A	NP_001316876.1:p.Ala1463Thr
NM_001329947.2:c.4387G>A	NP_001316876.1:p.Ala1463Thr
NM_001364701.1:c.4264G>A	NP_001351630.1:p.Ala1422Thr
NM_001364701.2:c.4264G>A	NP_001351630.1:p.Ala1422Thr
NM_014749.3:c.4291G>A	NP_055564.3:p.Ala1431Thr
NM_014749.4:c.4291G>A	NP_055564.3:p.Ala1431Thr
NM_014749.5:c.4291G>A	NP_055564.3:p.Ala1431Thr
ENST00000261244.9:c.4291G>A	ENSP00000261244.5:p.Ala1431Thr
ENST00000354386.10:c.4763G>A	ENSP00000346359.6:p.Arg1588His
ENST00000423743.7:c.4387G>A	ENSP00000399427.3:p.Ala1463Thr
ENST00000555397.1:c.499G>A	ENSP00000451356.1:p.Ala167Thr
ENST00000556134.5:c.4387G>A	ENSP00000452351.2:p.Ala1463Thr
ENST00000556235.1:n.294G>A
ENST00000619416.4:c.4474G>A	ENSP00000478083.1:p.Ala1492Thr
ENST00000619722.4:c.4264G>A	ENSP00000481936.1:p.Ala1422Thr
ENST00000619722.5:c.4264G>A	ENSP00000481936.1:p.Ala1422Thr
ENST00000650904.1:c.4438G>A	ENSP00000498606.1:p.Ala1480Thr
ENST00000651852.1:c.2123G>A	ENSP00000498990.1:p.Arg708His
ENST00000651937.1:c.*2854G>A	ENSP00000498785.1:n.*2854G>A
XM_024449779.1:c.4727G>A	XP_024305547.1:p.Arg1576His
XM_024449780.1:c.4628G>A	XP_024305548.1:p.Arg1543His
XM_024449781.1:c.4642G>A	XP_024305549.1:p.Ala1548Thr
XM_024449782.1:c.4373G>A	XP_024305550.1:p.Arg1458His
XM_024449783.1:c.4373G>A	XP_024305551.1:p.Arg1458His
XM_024449784.1:c.4373G>A	XP_024305552.1:p.Arg1458His
XM_024449785.1:c.4349G>A	XP_024305553.1:p.Arg1450His
XM_024449787.1:c.4208G>A	XP_024305555.1:p.Arg1403His
XM_024449788.1:c.4184G>A	XP_024305556.1:p.Arg1395His
XM_024449789.1:c.4184G>A	XP_024305557.1:p.Arg1395His
XM_024449791.1:c.4477G>A	XP_024305559.1:p.Ala1493Thr