Canonical Allele Identifier: CA389863120

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58444176G>T , CM000676.2:g.58444176G>T	GRCh38
NC_000014.8:g.58910894G>T , CM000676.1:g.58910894G>T	GRCh37
NC_000014.7:g.57980647G>T	NCBI36
NG_051335.2:g.21792G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.807+1G>T MANE Select	NP_001316872.1:n.807+1G>T
ENST00000652326.2:c.807+1G>T MANE Select	ENSP00000498929.1:n.807+1G>T
NM_001244189.1:c.966+1G>T	NP_001231118.1:n.966+1G>T
NM_001244189.2:c.966+1G>T	NP_001231118.1:n.966+1G>T
NM_001244190.1:c.762+1G>T	NP_001231119.1:n.762+1G>T
NM_001244190.2:c.762+1G>T	NP_001231119.1:n.762+1G>T
NM_001244191.1:c.552+1G>T	NP_001231120.1:n.552+1G>T
NM_001244191.2:c.552+1G>T	NP_001231120.1:n.552+1G>T
NM_001244192.1:c.675+1G>T	NP_001231121.1:n.675+1G>T
NM_001244192.2:c.675+1G>T	NP_001231121.1:n.675+1G>T
NM_001244193.1:c.387+1G>T	NP_001231122.1:n.387+1G>T
NM_001244193.2:c.387+1G>T	NP_001231122.1:n.387+1G>T
NM_001329943.2:c.807+1G>T	NP_001316872.1:n.807+1G>T
NM_001329944.1:c.807+1G>T	NP_001316873.1:n.807+1G>T
NM_001329944.2:c.807+1G>T	NP_001316873.1:n.807+1G>T
NM_001329945.1:c.552+1G>T	NP_001316874.1:n.552+1G>T
NM_001329945.2:c.552+1G>T	NP_001316874.1:n.552+1G>T
NM_001329946.1:c.807+1G>T	NP_001316875.1:n.807+1G>T
NM_001329946.2:c.807+1G>T	NP_001316875.1:n.807+1G>T
NM_001329947.1:c.807+1G>T	NP_001316876.1:n.807+1G>T
NM_001329947.2:c.807+1G>T	NP_001316876.1:n.807+1G>T
NM_001364700.1:c.552+1G>T	NP_001351629.1:n.552+1G>T
NM_001364701.1:c.552+1G>T	NP_001351630.1:n.552+1G>T
NM_001364701.2:c.552+1G>T	NP_001351630.1:n.552+1G>T
NM_014749.3:c.807+1G>T	NP_055564.3:n.807+1G>T
NM_014749.4:c.807+1G>T	NP_055564.3:n.807+1G>T
NM_014749.5:c.807+1G>T	NP_055564.3:n.807+1G>T
ENST00000261244.9:c.807+1G>T	ENSP00000261244.5:n.807+1G>T
ENST00000354386.10:c.966+1G>T	ENSP00000346359.6:n.966+1G>T
ENST00000423743.7:c.675+1G>T	ENSP00000399427.3:n.675+1G>T
ENST00000538571.6:n.397+1G>T
ENST00000555203.6:n.497+1G>T
ENST00000555833.5:c.552+1G>T	ENSP00000450855.1:n.552+1G>T
ENST00000556134.5:c.675+1G>T	ENSP00000452351.2:n.675+1G>T
ENST00000619416.4:c.762+1G>T	ENSP00000478083.1:n.762+1G>T
ENST00000619722.4:c.552+1G>T	ENSP00000481936.1:n.552+1G>T
ENST00000619722.5:c.552+1G>T	ENSP00000481936.1:n.552+1G>T
ENST00000650845.1:n.1353+1G>T
ENST00000650904.1:c.807+1G>T	ENSP00000498606.1:n.807+1G>T
ENST00000651937.1:c.762+1G>T	ENSP00000498785.1:n.762+1G>T
ENST00000652120.1:n.713+1G>T
ENST00000652732.1:c.*373+1G>T	ENSP00000498799.1:n.*373+1G>T
ENST00000674802.1:n.1040G>T
XM_024449779.1:c.930+1G>T	XP_024305547.1:n.930+1G>T
XM_024449780.1:c.807+1G>T	XP_024305548.1:n.807+1G>T
XM_024449781.1:c.930+1G>T	XP_024305549.1:n.930+1G>T
XM_024449782.1:c.552+1G>T	XP_024305550.1:n.552+1G>T
XM_024449783.1:c.552+1G>T	XP_024305551.1:n.552+1G>T
XM_024449784.1:c.552+1G>T	XP_024305552.1:n.552+1G>T
XM_024449785.1:c.552+1G>T	XP_024305553.1:n.552+1G>T
XM_024449787.1:c.411+1G>T	XP_024305555.1:n.411+1G>T
XM_024449788.1:c.387+1G>T	XP_024305556.1:n.387+1G>T
XM_024449789.1:c.387+1G>T	XP_024305557.1:n.387+1G>T
XM_024449791.1:c.807+1G>T	XP_024305559.1:n.807+1G>T