Canonical Allele Identifier: CA7206224

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58488761C>G , CM000676.2:g.58488761C>G	GRCh38
NC_000014.8:g.58955479C>G , CM000676.1:g.58955479C>G	GRCh37
NC_000014.7:g.58025232C>G	NCBI36
NG_051335.2:g.66377C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.3668C>G MANE Select	NP_001316872.1:p.Ser1223Ter
ENST00000652326.2:c.3668C>G MANE Select	ENSP00000498929.1:p.Ser1223Ter
NM_001244189.1:c.3827C>G	NP_001231118.1:p.Ser1276Ter
NM_001244189.2:c.3827C>G	NP_001231118.1:p.Ser1276Ter
NM_001244190.1:c.3623C>G	NP_001231119.1:p.Ser1208Ter
NM_001244190.2:c.3623C>G	NP_001231119.1:p.Ser1208Ter
NM_001244191.1:c.3413C>G	NP_001231120.1:p.Ser1138Ter
NM_001244191.2:c.3413C>G	NP_001231120.1:p.Ser1138Ter
NM_001244192.1:c.3536C>G	NP_001231121.1:p.Ser1179Ter
NM_001244192.2:c.3536C>G	NP_001231121.1:p.Ser1179Ter
NM_001244193.1:c.3248C>G	NP_001231122.1:p.Ser1083Ter
NM_001244193.2:c.3248C>G	NP_001231122.1:p.Ser1083Ter
NM_001329943.2:c.3668C>G	NP_001316872.1:p.Ser1223Ter
NM_001329944.1:c.3668C>G	NP_001316873.1:p.Ser1223Ter
NM_001329944.2:c.3668C>G	NP_001316873.1:p.Ser1223Ter
NM_001329945.1:c.3413C>G	NP_001316874.1:p.Ser1138Ter
NM_001329945.2:c.3413C>G	NP_001316874.1:p.Ser1138Ter
NM_001329946.1:c.3668C>G	NP_001316875.1:p.Ser1223Ter
NM_001329946.2:c.3668C>G	NP_001316875.1:p.Ser1223Ter
NM_001329947.1:c.3668C>G	NP_001316876.1:p.Ser1223Ter
NM_001329947.2:c.3668C>G	NP_001316876.1:p.Ser1223Ter
NM_001364700.1:c.3413C>G	NP_001351629.1:p.Ser1138Ter
NM_001364701.1:c.3413C>G	NP_001351630.1:p.Ser1138Ter
NM_001364701.2:c.3413C>G	NP_001351630.1:p.Ser1138Ter
NM_014749.3:c.3440C>G	NP_055564.3:p.Ser1147Ter
NM_014749.4:c.3440C>G	NP_055564.3:p.Ser1147Ter
NM_014749.5:c.3440C>G	NP_055564.3:p.Ser1147Ter
ENST00000261244.9:c.3440C>G	ENSP00000261244.5:p.Ser1147Ter
ENST00000354386.10:c.3827C>G	ENSP00000346359.6:p.Ser1276Ter
ENST00000423743.7:c.3536C>G	ENSP00000399427.3:p.Ser1179Ter
ENST00000538571.6:n.3258C>G
ENST00000556134.5:c.3536C>G	ENSP00000452351.2:p.Ser1179Ter
ENST00000619416.4:c.3623C>G	ENSP00000478083.1:p.Ser1208Ter
ENST00000619722.4:c.3413C>G	ENSP00000481936.1:p.Ser1138Ter
ENST00000619722.5:c.3413C>G	ENSP00000481936.1:p.Ser1138Ter
ENST00000650845.1:n.4133C>G
ENST00000650904.1:c.3587C>G	ENSP00000498606.1:p.Ser1196Ter
ENST00000651596.1:c.418C>G
ENST00000651759.1:c.2336C>G	ENSP00000498415.1:p.Ser779Ter
ENST00000651852.1:c.1187C>G	ENSP00000498990.1:p.Ser396Ter
ENST00000651937.1:c.*1871C>G	ENSP00000498785.1:n.*1871C>G
ENST00000652414.1:c.1772C>G	ENSP00000498397.1:p.Ser591Ter
ENST00000652732.1:c.*3153C>G	ENSP00000498799.1:n.*3153C>G
XM_024449779.1:c.3791C>G	XP_024305547.1:p.Ser1264Ter
XM_024449780.1:c.3692C>G	XP_024305548.1:p.Ser1231Ter
XM_024449781.1:c.3791C>G	XP_024305549.1:p.Ser1264Ter
XM_024449782.1:c.3437C>G	XP_024305550.1:p.Ser1146Ter
XM_024449783.1:c.3437C>G	XP_024305551.1:p.Ser1146Ter
XM_024449784.1:c.3437C>G	XP_024305552.1:p.Ser1146Ter
XM_024449785.1:c.3413C>G	XP_024305553.1:p.Ser1138Ter
XM_024449787.1:c.3272C>G	XP_024305555.1:p.Ser1091Ter
XM_024449788.1:c.3248C>G	XP_024305556.1:p.Ser1083Ter
XM_024449789.1:c.3248C>G	XP_024305557.1:p.Ser1083Ter
XM_024449791.1:c.3692C>G	XP_024305559.1:p.Ser1231Ter