Canonical Allele Identifier: CA389877314

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58472280G>T , CM000676.2:g.58472280G>T	GRCh38
NC_000014.8:g.58938998G>T , CM000676.1:g.58938998G>T	GRCh37
NC_000014.7:g.58008751G>T	NCBI36
NG_051335.2:g.49896G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.2634+1G>T MANE Select	NP_001316872.1:n.2634+1G>T
ENST00000652326.2:c.2634+1G>T MANE Select	ENSP00000498929.1:n.2634+1G>T
NM_001244189.1:c.2793+1G>T	NP_001231118.1:n.2793+1G>T
NM_001244189.2:c.2793+1G>T	NP_001231118.1:n.2793+1G>T
NM_001244190.1:c.2589+1G>T	NP_001231119.1:n.2589+1G>T
NM_001244190.2:c.2589+1G>T	NP_001231119.1:n.2589+1G>T
NM_001244191.1:c.2379+1G>T	NP_001231120.1:n.2379+1G>T
NM_001244191.2:c.2379+1G>T	NP_001231120.1:n.2379+1G>T
NM_001244192.1:c.2502+1G>T	NP_001231121.1:n.2502+1G>T
NM_001244192.2:c.2502+1G>T	NP_001231121.1:n.2502+1G>T
NM_001244193.1:c.2214+1G>T	NP_001231122.1:n.2214+1G>T
NM_001244193.2:c.2214+1G>T	NP_001231122.1:n.2214+1G>T
NM_001329943.2:c.2634+1G>T	NP_001316872.1:n.2634+1G>T
NM_001329944.1:c.2634+1G>T	NP_001316873.1:n.2634+1G>T
NM_001329944.2:c.2634+1G>T	NP_001316873.1:n.2634+1G>T
NM_001329945.1:c.2379+1G>T	NP_001316874.1:n.2379+1G>T
NM_001329945.2:c.2379+1G>T	NP_001316874.1:n.2379+1G>T
NM_001329946.1:c.2634+1G>T	NP_001316875.1:n.2634+1G>T
NM_001329946.2:c.2634+1G>T	NP_001316875.1:n.2634+1G>T
NM_001329947.1:c.2634+1G>T	NP_001316876.1:n.2634+1G>T
NM_001329947.2:c.2634+1G>T	NP_001316876.1:n.2634+1G>T
NM_001364700.1:c.2379+1G>T	NP_001351629.1:n.2379+1G>T
NM_001364701.1:c.2379+1G>T	NP_001351630.1:n.2379+1G>T
NM_001364701.2:c.2379+1G>T	NP_001351630.1:n.2379+1G>T
NM_014749.3:c.2406+1G>T	NP_055564.3:n.2406+1G>T
NM_014749.4:c.2406+1G>T	NP_055564.3:n.2406+1G>T
NM_014749.5:c.2406+1G>T	NP_055564.3:n.2406+1G>T
ENST00000261244.9:c.2406+1G>T	ENSP00000261244.5:n.2406+1G>T
ENST00000354386.10:c.2793+1G>T	ENSP00000346359.6:n.2793+1G>T
ENST00000423743.7:c.2502+1G>T	ENSP00000399427.3:n.2502+1G>T
ENST00000538571.6:n.2224+1G>T
ENST00000556134.5:c.2502+1G>T	ENSP00000452351.2:n.2502+1G>T
ENST00000619416.4:c.2589+1G>T	ENSP00000478083.1:n.2589+1G>T
ENST00000619722.4:c.2379+1G>T	ENSP00000481936.1:n.2379+1G>T
ENST00000619722.5:c.2379+1G>T	ENSP00000481936.1:n.2379+1G>T
ENST00000650845.1:n.3099+1557G>T
ENST00000650904.1:c.2553+1557G>T	ENSP00000498606.1:n.2553+1557G>T
ENST00000651759.1:c.1302+1557G>T	ENSP00000498415.1:n.1302+1557G>T
ENST00000651852.1:c.153+1G>T	ENSP00000498990.1:n.153+1G>T
ENST00000651937.1:c.*715+1G>T	ENSP00000498785.1:n.*715+1G>T
ENST00000652414.1:c.738+1G>T	ENSP00000498397.1:n.738+1G>T
ENST00000652732.1:c.*2119+1557G>T	ENSP00000498799.1:n.*2119+1557G>T
XM_024449779.1:c.2757+1G>T	XP_024305547.1:n.2757+1G>T
XM_024449780.1:c.2658+1G>T	XP_024305548.1:n.2658+1G>T
XM_024449781.1:c.2757+1G>T	XP_024305549.1:n.2757+1G>T
XM_024449782.1:c.2403+1G>T	XP_024305550.1:n.2403+1G>T
XM_024449783.1:c.2403+1G>T	XP_024305551.1:n.2403+1G>T
XM_024449784.1:c.2403+1G>T	XP_024305552.1:n.2403+1G>T
XM_024449785.1:c.2379+1G>T	XP_024305553.1:n.2379+1G>T
XM_024449787.1:c.2238+1G>T	XP_024305555.1:n.2238+1G>T
XM_024449788.1:c.2214+1G>T	XP_024305556.1:n.2214+1G>T
XM_024449789.1:c.2214+1G>T	XP_024305557.1:n.2214+1G>T
XM_024449791.1:c.2658+1G>T	XP_024305559.1:n.2658+1G>T