Canonical Allele Identifier: CA261627344

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58461068G>A , CM000676.2:g.58461068G>A	GRCh38
NC_000014.8:g.58927786G>A , CM000676.1:g.58927786G>A	GRCh37
NC_000014.7:g.57997539G>A	NCBI36
NG_051335.2:g.38684G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.1967G>A MANE Select	NP_001316872.1:p.Arg656Gln
ENST00000652326.2:c.1967G>A MANE Select	ENSP00000498929.1:p.Arg656Gln
NM_001244189.1:c.2126G>A	NP_001231118.1:p.Arg709Gln
NM_001244189.2:c.2126G>A	NP_001231118.1:p.Arg709Gln
NM_001244190.1:c.1922G>A	NP_001231119.1:p.Arg641Gln
NM_001244190.2:c.1922G>A	NP_001231119.1:p.Arg641Gln
NM_001244191.1:c.1712G>A	NP_001231120.1:p.Arg571Gln
NM_001244191.2:c.1712G>A	NP_001231120.1:p.Arg571Gln
NM_001244192.1:c.1835G>A	NP_001231121.1:p.Arg612Gln
NM_001244192.2:c.1835G>A	NP_001231121.1:p.Arg612Gln
NM_001244193.1:c.1547G>A	NP_001231122.1:p.Arg516Gln
NM_001244193.2:c.1547G>A	NP_001231122.1:p.Arg516Gln
NM_001329943.2:c.1967G>A	NP_001316872.1:p.Arg656Gln
NM_001329944.1:c.1967G>A	NP_001316873.1:p.Arg656Gln
NM_001329944.2:c.1967G>A	NP_001316873.1:p.Arg656Gln
NM_001329945.1:c.1712G>A	NP_001316874.1:p.Arg571Gln
NM_001329945.2:c.1712G>A	NP_001316874.1:p.Arg571Gln
NM_001329946.1:c.1967G>A	NP_001316875.1:p.Arg656Gln
NM_001329946.2:c.1967G>A	NP_001316875.1:p.Arg656Gln
NM_001329947.1:c.1967G>A	NP_001316876.1:p.Arg656Gln
NM_001329947.2:c.1967G>A	NP_001316876.1:p.Arg656Gln
NM_001364700.1:c.1712G>A	NP_001351629.1:p.Arg571Gln
NM_001364701.1:c.1712G>A	NP_001351630.1:p.Arg571Gln
NM_001364701.2:c.1712G>A	NP_001351630.1:p.Arg571Gln
NM_014749.3:c.1739G>A	NP_055564.3:p.Arg580Gln
NM_014749.4:c.1739G>A	NP_055564.3:p.Arg580Gln
NM_014749.5:c.1739G>A	NP_055564.3:p.Arg580Gln
ENST00000261244.9:c.1739G>A	ENSP00000261244.5:p.Arg580Gln
ENST00000354386.10:c.2126G>A	ENSP00000346359.6:p.Arg709Gln
ENST00000423743.7:c.1835G>A	ENSP00000399427.3:p.Arg612Gln
ENST00000538571.6:n.1557G>A
ENST00000556134.5:c.1835G>A	ENSP00000452351.2:p.Arg612Gln
ENST00000619416.4:c.1922G>A	ENSP00000478083.1:p.Arg641Gln
ENST00000619722.4:c.1712G>A	ENSP00000481936.1:p.Arg571Gln
ENST00000619722.5:c.1712G>A	ENSP00000481936.1:p.Arg571Gln
ENST00000650845.1:n.2513G>A
ENST00000650904.1:c.1967G>A	ENSP00000498606.1:p.Arg656Gln
ENST00000651759.1:c.716G>A	ENSP00000498415.1:p.Arg239Gln
ENST00000651937.1:c.*48G>A	ENSP00000498785.1:n.*48G>A
ENST00000652414.1:c.71G>A	ENSP00000498397.1:p.Arg24Gln
ENST00000652732.1:c.*1533G>A	ENSP00000498799.1:n.*1533G>A
XM_024449779.1:c.2090G>A	XP_024305547.1:p.Arg697Gln
XM_024449780.1:c.1991G>A	XP_024305548.1:p.Arg664Gln
XM_024449781.1:c.2090G>A	XP_024305549.1:p.Arg697Gln
XM_024449782.1:c.1736G>A	XP_024305550.1:p.Arg579Gln
XM_024449783.1:c.1736G>A	XP_024305551.1:p.Arg579Gln
XM_024449784.1:c.1736G>A	XP_024305552.1:p.Arg579Gln
XM_024449785.1:c.1712G>A	XP_024305553.1:p.Arg571Gln
XM_024449787.1:c.1571G>A	XP_024305555.1:p.Arg524Gln
XM_024449788.1:c.1547G>A	XP_024305556.1:p.Arg516Gln
XM_024449789.1:c.1547G>A	XP_024305557.1:p.Arg516Gln
XM_024449791.1:c.1991G>A	XP_024305559.1:p.Arg664Gln