Canonical Allele Identifier: CA7206292

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58492265A>G , CM000676.2:g.58492265A>G	GRCh38
NC_000014.8:g.58958983A>G , CM000676.1:g.58958983A>G	GRCh37
NC_000014.7:g.58028736A>G	NCBI36
NG_051335.2:g.69881A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.3980A>G MANE Select	NP_001316872.1:p.Tyr1327Cys
ENST00000652326.2:c.3980A>G MANE Select	ENSP00000498929.1:p.Tyr1327Cys
NM_001244189.1:c.4139A>G	NP_001231118.1:p.Tyr1380Cys
NM_001244189.2:c.4139A>G	NP_001231118.1:p.Tyr1380Cys
NM_001244190.1:c.3935A>G	NP_001231119.1:p.Tyr1312Cys
NM_001244190.2:c.3935A>G	NP_001231119.1:p.Tyr1312Cys
NM_001244191.1:c.3725A>G	NP_001231120.1:p.Tyr1242Cys
NM_001244191.2:c.3725A>G	NP_001231120.1:p.Tyr1242Cys
NM_001244192.1:c.3848A>G	NP_001231121.1:p.Tyr1283Cys
NM_001244192.2:c.3848A>G	NP_001231121.1:p.Tyr1283Cys
NM_001244193.1:c.3560A>G	NP_001231122.1:p.Tyr1187Cys
NM_001244193.2:c.3560A>G	NP_001231122.1:p.Tyr1187Cys
NM_001329943.2:c.3980A>G	NP_001316872.1:p.Tyr1327Cys
NM_001329944.1:c.3980A>G	NP_001316873.1:p.Tyr1327Cys
NM_001329944.2:c.3980A>G	NP_001316873.1:p.Tyr1327Cys
NM_001329945.1:c.3725A>G	NP_001316874.1:p.Tyr1242Cys
NM_001329945.2:c.3725A>G	NP_001316874.1:p.Tyr1242Cys
NM_001329946.1:c.3980A>G	NP_001316875.1:p.Tyr1327Cys
NM_001329946.2:c.3980A>G	NP_001316875.1:p.Tyr1327Cys
NM_001329947.1:c.3858+2025A>G	NP_001316876.1:n.3858+2025A>G
NM_001329947.2:c.3858+2025A>G	NP_001316876.1:n.3858+2025A>G
NM_001364700.1:c.3725A>G	NP_001351629.1:p.Tyr1242Cys
NM_001364701.1:c.3725A>G	NP_001351630.1:p.Tyr1242Cys
NM_001364701.2:c.3725A>G	NP_001351630.1:p.Tyr1242Cys
NM_014749.3:c.3752A>G	NP_055564.3:p.Tyr1251Cys
NM_014749.4:c.3752A>G	NP_055564.3:p.Tyr1251Cys
NM_014749.5:c.3752A>G	NP_055564.3:p.Tyr1251Cys
ENST00000261244.9:c.3752A>G	ENSP00000261244.5:p.Tyr1251Cys
ENST00000354386.10:c.4139A>G	ENSP00000346359.6:p.Tyr1380Cys
ENST00000423743.7:c.3848A>G	ENSP00000399427.3:p.Tyr1283Cys
ENST00000538571.6:n.3570A>G
ENST00000555397.1:c.36+2025A>G	ENSP00000451356.1:n.36+2025A>G
ENST00000556134.5:c.3848A>G	ENSP00000452351.2:p.Tyr1283Cys
ENST00000619416.4:c.3935A>G	ENSP00000478083.1:p.Tyr1312Cys
ENST00000619722.4:c.3725A>G	ENSP00000481936.1:p.Tyr1242Cys
ENST00000619722.5:c.3725A>G	ENSP00000481936.1:p.Tyr1242Cys
ENST00000650845.1:n.4445A>G
ENST00000650904.1:c.3899A>G	ENSP00000498606.1:p.Tyr1300Cys
ENST00000651596.1:c.730A>G
ENST00000651759.1:c.2648A>G	ENSP00000498415.1:p.Tyr883Cys
ENST00000651852.1:c.1499A>G	ENSP00000498990.1:p.Tyr500Cys
ENST00000651937.1:c.*2183A>G	ENSP00000498785.1:n.*2183A>G
ENST00000652414.1:c.2084A>G	ENSP00000498397.1:p.Tyr695Cys
ENST00000652732.1:c.*3465A>G	ENSP00000498799.1:n.*3465A>G
XM_024449779.1:c.4103A>G	XP_024305547.1:p.Tyr1368Cys
XM_024449780.1:c.4004A>G	XP_024305548.1:p.Tyr1335Cys
XM_024449781.1:c.4103A>G	XP_024305549.1:p.Tyr1368Cys
XM_024449782.1:c.3749A>G	XP_024305550.1:p.Tyr1250Cys
XM_024449783.1:c.3749A>G	XP_024305551.1:p.Tyr1250Cys
XM_024449784.1:c.3749A>G	XP_024305552.1:p.Tyr1250Cys
XM_024449785.1:c.3725A>G	XP_024305553.1:p.Tyr1242Cys
XM_024449787.1:c.3584A>G	XP_024305555.1:p.Tyr1195Cys
XM_024449788.1:c.3560A>G	XP_024305556.1:p.Tyr1187Cys
XM_024449789.1:c.3560A>G	XP_024305557.1:p.Tyr1187Cys
XM_024449791.1:c.4004A>G	XP_024305559.1:p.Tyr1335Cys