Canonical Allele Identifier: CA7206207

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58488673C>T , CM000676.2:g.58488673C>T	GRCh38
NC_000014.8:g.58955391C>T , CM000676.1:g.58955391C>T	GRCh37
NC_000014.7:g.58025144C>T	NCBI36
NG_051335.2:g.66289C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.3580C>T MANE Select	NP_001316872.1:p.Gln1194Ter
ENST00000652326.2:c.3580C>T MANE Select	ENSP00000498929.1:p.Gln1194Ter
NM_001244189.1:c.3739C>T	NP_001231118.1:p.Gln1247Ter
NM_001244189.2:c.3739C>T	NP_001231118.1:p.Gln1247Ter
NM_001244190.1:c.3535C>T	NP_001231119.1:p.Gln1179Ter
NM_001244190.2:c.3535C>T	NP_001231119.1:p.Gln1179Ter
NM_001244191.1:c.3325C>T	NP_001231120.1:p.Gln1109Ter
NM_001244191.2:c.3325C>T	NP_001231120.1:p.Gln1109Ter
NM_001244192.1:c.3448C>T	NP_001231121.1:p.Gln1150Ter
NM_001244192.2:c.3448C>T	NP_001231121.1:p.Gln1150Ter
NM_001244193.1:c.3160C>T	NP_001231122.1:p.Gln1054Ter
NM_001244193.2:c.3160C>T	NP_001231122.1:p.Gln1054Ter
NM_001329943.2:c.3580C>T	NP_001316872.1:p.Gln1194Ter
NM_001329944.1:c.3580C>T	NP_001316873.1:p.Gln1194Ter
NM_001329944.2:c.3580C>T	NP_001316873.1:p.Gln1194Ter
NM_001329945.1:c.3325C>T	NP_001316874.1:p.Gln1109Ter
NM_001329945.2:c.3325C>T	NP_001316874.1:p.Gln1109Ter
NM_001329946.1:c.3580C>T	NP_001316875.1:p.Gln1194Ter
NM_001329946.2:c.3580C>T	NP_001316875.1:p.Gln1194Ter
NM_001329947.1:c.3580C>T	NP_001316876.1:p.Gln1194Ter
NM_001329947.2:c.3580C>T	NP_001316876.1:p.Gln1194Ter
NM_001364700.1:c.3325C>T	NP_001351629.1:p.Gln1109Ter
NM_001364701.1:c.3325C>T	NP_001351630.1:p.Gln1109Ter
NM_001364701.2:c.3325C>T	NP_001351630.1:p.Gln1109Ter
NM_014749.3:c.3352C>T	NP_055564.3:p.Gln1118Ter
NM_014749.4:c.3352C>T	NP_055564.3:p.Gln1118Ter
NM_014749.5:c.3352C>T	NP_055564.3:p.Gln1118Ter
ENST00000261244.9:c.3352C>T	ENSP00000261244.5:p.Gln1118Ter
ENST00000354386.10:c.3739C>T	ENSP00000346359.6:p.Gln1247Ter
ENST00000423743.7:c.3448C>T	ENSP00000399427.3:p.Gln1150Ter
ENST00000538571.6:n.3170C>T
ENST00000556134.5:c.3448C>T	ENSP00000452351.2:p.Gln1150Ter
ENST00000619416.4:c.3535C>T	ENSP00000478083.1:p.Gln1179Ter
ENST00000619722.4:c.3325C>T	ENSP00000481936.1:p.Gln1109Ter
ENST00000619722.5:c.3325C>T	ENSP00000481936.1:p.Gln1109Ter
ENST00000650845.1:n.4045C>T
ENST00000650904.1:c.3499C>T	ENSP00000498606.1:p.Gln1167Ter
ENST00000651596.1:c.330C>T
ENST00000651759.1:c.2248C>T	ENSP00000498415.1:p.Gln750Ter
ENST00000651852.1:c.1099C>T	ENSP00000498990.1:p.Gln367Ter
ENST00000651937.1:c.*1783C>T	ENSP00000498785.1:n.*1783C>T
ENST00000652414.1:c.1684C>T	ENSP00000498397.1:p.Gln562Ter
ENST00000652732.1:c.*3065C>T	ENSP00000498799.1:n.*3065C>T
XM_024449779.1:c.3703C>T	XP_024305547.1:p.Gln1235Ter
XM_024449780.1:c.3604C>T	XP_024305548.1:p.Gln1202Ter
XM_024449781.1:c.3703C>T	XP_024305549.1:p.Gln1235Ter
XM_024449782.1:c.3349C>T	XP_024305550.1:p.Gln1117Ter
XM_024449783.1:c.3349C>T	XP_024305551.1:p.Gln1117Ter
XM_024449784.1:c.3349C>T	XP_024305552.1:p.Gln1117Ter
XM_024449785.1:c.3325C>T	XP_024305553.1:p.Gln1109Ter
XM_024449787.1:c.3184C>T	XP_024305555.1:p.Gln1062Ter
XM_024449788.1:c.3160C>T	XP_024305556.1:p.Gln1054Ter
XM_024449789.1:c.3160C>T	XP_024305557.1:p.Gln1054Ter
XM_024449791.1:c.3604C>T	XP_024305559.1:p.Gln1202Ter