Canonical Allele Identifier: CA262037732

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58543921A>T , CM000676.2:g.58543921A>T	GRCh38
NC_000014.8:g.59010639A>T , CM000676.1:g.59010639A>T	GRCh37
NC_000014.7:g.58080392A>T	NCBI36
NG_051335.2:g.121537A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.4495+3785A>T MANE Select	NP_001316872.1:n.4495+3785A>T
ENST00000652326.2:c.4495+3785A>T MANE Select	ENSP00000498929.1:n.4495+3785A>T
NM_001244189.1:c.4693A>T	NP_001231118.1:p.Lys1565Ter
NM_001244189.2:c.4693A>T	NP_001231118.1:p.Lys1565Ter
NM_001244190.1:c.4450+3785A>T	NP_001231119.1:n.4450+3785A>T
NM_001244190.2:c.4450+3785A>T	NP_001231119.1:n.4450+3785A>T
NM_001244191.1:c.4240+3785A>T	NP_001231120.1:n.4240+3785A>T
NM_001244191.2:c.4240+3785A>T	NP_001231120.1:n.4240+3785A>T
NM_001244192.1:c.4363+3785A>T	NP_001231121.1:n.4363+3785A>T
NM_001244192.2:c.4363+3785A>T	NP_001231121.1:n.4363+3785A>T
NM_001329943.2:c.4495+3785A>T	NP_001316872.1:n.4495+3785A>T
NM_001329944.1:c.4534A>T	NP_001316873.1:p.Lys1512Ter
NM_001329944.2:c.4534A>T	NP_001316873.1:p.Lys1512Ter
NM_001329945.1:c.4175-3860A>T	NP_001316874.1:n.4175-3860A>T
NM_001329945.2:c.4175-3860A>T	NP_001316874.1:n.4175-3860A>T
NM_001329946.1:c.4430-3860A>T	NP_001316875.1:n.4430-3860A>T
NM_001329946.2:c.4430-3860A>T	NP_001316875.1:n.4430-3860A>T
NM_001329947.1:c.4363+3785A>T	NP_001316876.1:n.4363+3785A>T
NM_001329947.2:c.4363+3785A>T	NP_001316876.1:n.4363+3785A>T
NM_001364701.1:c.4240+3785A>T	NP_001351630.1:n.4240+3785A>T
NM_001364701.2:c.4240+3785A>T	NP_001351630.1:n.4240+3785A>T
NM_014749.3:c.4267+3785A>T	NP_055564.3:n.4267+3785A>T
NM_014749.4:c.4267+3785A>T	NP_055564.3:n.4267+3785A>T
NM_014749.5:c.4267+3785A>T	NP_055564.3:n.4267+3785A>T
ENST00000261244.9:c.4267+3785A>T	ENSP00000261244.5:n.4267+3785A>T
ENST00000354386.10:c.4693A>T	ENSP00000346359.6:p.Lys1565Ter
ENST00000423743.7:c.4363+3785A>T	ENSP00000399427.3:n.4363+3785A>T
ENST00000555397.1:c.476-3860A>T	ENSP00000451356.1:n.476-3860A>T
ENST00000556134.5:c.4363+3785A>T	ENSP00000452351.2:n.4363+3785A>T
ENST00000556235.1:n.270+3785A>T
ENST00000619416.4:c.4450+3785A>T	ENSP00000478083.1:n.4450+3785A>T
ENST00000619722.4:c.4240+3785A>T	ENSP00000481936.1:n.4240+3785A>T
ENST00000619722.5:c.4240+3785A>T	ENSP00000481936.1:n.4240+3785A>T
ENST00000650904.1:c.4414+3785A>T	ENSP00000498606.1:n.4414+3785A>T
ENST00000651852.1:c.2100-3860A>T	ENSP00000498990.1:n.2100-3860A>T
ENST00000651937.1:c.*2830+3785A>T	ENSP00000498785.1:n.*2830+3785A>T
XM_024449779.1:c.4657A>T	XP_024305547.1:p.Lys1553Ter
XM_024449780.1:c.4558A>T	XP_024305548.1:p.Lys1520Ter
XM_024449781.1:c.4618+3785A>T	XP_024305549.1:n.4618+3785A>T
XM_024449782.1:c.4303A>T	XP_024305550.1:p.Lys1435Ter
XM_024449783.1:c.4303A>T	XP_024305551.1:p.Lys1435Ter
XM_024449784.1:c.4303A>T	XP_024305552.1:p.Lys1435Ter
XM_024449785.1:c.4279A>T	XP_024305553.1:p.Lys1427Ter
XM_024449787.1:c.4138A>T	XP_024305555.1:p.Lys1380Ter
XM_024449788.1:c.4114A>T	XP_024305556.1:p.Lys1372Ter
XM_024449789.1:c.4114A>T	XP_024305557.1:p.Lys1372Ter
XM_024449791.1:c.4454-3860A>T	XP_024305559.1:n.4454-3860A>T