Canonical Allele Identifier: CA7205655

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58457810G>A , CM000676.2:g.58457810G>A	GRCh38
NC_000014.8:g.58924528G>A , CM000676.1:g.58924528G>A	GRCh37
NC_000014.7:g.57994281G>A	NCBI36
NG_051335.2:g.35426G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.1414G>A MANE Select	NP_001316872.1:p.Val472Ile
ENST00000652326.2:c.1414G>A MANE Select	ENSP00000498929.1:p.Val472Ile
NM_001244189.1:c.1573G>A	NP_001231118.1:p.Val525Ile
NM_001244189.2:c.1573G>A	NP_001231118.1:p.Val525Ile
NM_001244190.1:c.1369G>A	NP_001231119.1:p.Val457Ile
NM_001244190.2:c.1369G>A	NP_001231119.1:p.Val457Ile
NM_001244191.1:c.1159G>A	NP_001231120.1:p.Val387Ile
NM_001244191.2:c.1159G>A	NP_001231120.1:p.Val387Ile
NM_001244192.1:c.1282G>A	NP_001231121.1:p.Val428Ile
NM_001244192.2:c.1282G>A	NP_001231121.1:p.Val428Ile
NM_001244193.1:c.994G>A	NP_001231122.1:p.Val332Ile
NM_001244193.2:c.994G>A	NP_001231122.1:p.Val332Ile
NM_001329943.2:c.1414G>A	NP_001316872.1:p.Val472Ile
NM_001329944.1:c.1414G>A	NP_001316873.1:p.Val472Ile
NM_001329944.2:c.1414G>A	NP_001316873.1:p.Val472Ile
NM_001329945.1:c.1159G>A	NP_001316874.1:p.Val387Ile
NM_001329945.2:c.1159G>A	NP_001316874.1:p.Val387Ile
NM_001329946.1:c.1414G>A	NP_001316875.1:p.Val472Ile
NM_001329946.2:c.1414G>A	NP_001316875.1:p.Val472Ile
NM_001329947.1:c.1414G>A	NP_001316876.1:p.Val472Ile
NM_001329947.2:c.1414G>A	NP_001316876.1:p.Val472Ile
NM_001364700.1:c.1159G>A	NP_001351629.1:p.Val387Ile
NM_001364701.1:c.1159G>A	NP_001351630.1:p.Val387Ile
NM_001364701.2:c.1159G>A	NP_001351630.1:p.Val387Ile
NM_014749.3:c.1414G>A	NP_055564.3:p.Val472Ile
NM_014749.4:c.1414G>A	NP_055564.3:p.Val472Ile
NM_014749.5:c.1414G>A	NP_055564.3:p.Val472Ile
ENST00000261244.9:c.1414G>A	ENSP00000261244.5:p.Val472Ile
ENST00000354386.10:c.1573G>A	ENSP00000346359.6:p.Val525Ile
ENST00000423743.7:c.1282G>A	ENSP00000399427.3:p.Val428Ile
ENST00000538571.6:n.1004G>A
ENST00000556134.5:c.1282G>A	ENSP00000452351.2:p.Val428Ile
ENST00000619416.4:c.1369G>A	ENSP00000478083.1:p.Val457Ile
ENST00000619722.4:c.1159G>A	ENSP00000481936.1:p.Val387Ile
ENST00000619722.5:c.1159G>A	ENSP00000481936.1:p.Val387Ile
ENST00000650845.1:n.1960G>A
ENST00000650904.1:c.1414G>A	ENSP00000498606.1:p.Val472Ile
ENST00000651759.1:c.163G>A	ENSP00000498415.1:p.Val55Ile
ENST00000651937.1:c.1369G>A	ENSP00000498785.1:p.Val457Ile
ENST00000652120.1:n.1166G>A
ENST00000652732.1:c.*980G>A	ENSP00000498799.1:n.*980G>A
XM_024449779.1:c.1537G>A	XP_024305547.1:p.Val513Ile
XM_024449780.1:c.1438G>A	XP_024305548.1:p.Val480Ile
XM_024449781.1:c.1537G>A	XP_024305549.1:p.Val513Ile
XM_024449782.1:c.1183G>A	XP_024305550.1:p.Val395Ile
XM_024449783.1:c.1183G>A	XP_024305551.1:p.Val395Ile
XM_024449784.1:c.1183G>A	XP_024305552.1:p.Val395Ile
XM_024449785.1:c.1159G>A	XP_024305553.1:p.Val387Ile
XM_024449787.1:c.1018G>A	XP_024305555.1:p.Val340Ile
XM_024449788.1:c.994G>A	XP_024305556.1:p.Val332Ile
XM_024449789.1:c.994G>A	XP_024305557.1:p.Val332Ile
XM_024449791.1:c.1438G>A	XP_024305559.1:p.Val480Ile