Canonical Allele Identifier: CA389882989

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58488876T>C , CM000676.2:g.58488876T>C	GRCh38
NC_000014.8:g.58955594T>C , CM000676.1:g.58955594T>C	GRCh37
NC_000014.7:g.58025347T>C	NCBI36
NG_051335.2:g.66492T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.3781+2T>C MANE Select	NP_001316872.1:n.3781+2T>C
ENST00000652326.2:c.3781+2T>C MANE Select	ENSP00000498929.1:n.3781+2T>C
NM_001244189.1:c.3940+2T>C	NP_001231118.1:n.3940+2T>C
NM_001244189.2:c.3940+2T>C	NP_001231118.1:n.3940+2T>C
NM_001244190.1:c.3736+2T>C	NP_001231119.1:n.3736+2T>C
NM_001244190.2:c.3736+2T>C	NP_001231119.1:n.3736+2T>C
NM_001244191.1:c.3526+2T>C	NP_001231120.1:n.3526+2T>C
NM_001244191.2:c.3526+2T>C	NP_001231120.1:n.3526+2T>C
NM_001244192.1:c.3649+2T>C	NP_001231121.1:n.3649+2T>C
NM_001244192.2:c.3649+2T>C	NP_001231121.1:n.3649+2T>C
NM_001244193.1:c.3361+2T>C	NP_001231122.1:n.3361+2T>C
NM_001244193.2:c.3361+2T>C	NP_001231122.1:n.3361+2T>C
NM_001329943.2:c.3781+2T>C	NP_001316872.1:n.3781+2T>C
NM_001329944.1:c.3781+2T>C	NP_001316873.1:n.3781+2T>C
NM_001329944.2:c.3781+2T>C	NP_001316873.1:n.3781+2T>C
NM_001329945.1:c.3526+2T>C	NP_001316874.1:n.3526+2T>C
NM_001329945.2:c.3526+2T>C	NP_001316874.1:n.3526+2T>C
NM_001329946.1:c.3781+2T>C	NP_001316875.1:n.3781+2T>C
NM_001329946.2:c.3781+2T>C	NP_001316875.1:n.3781+2T>C
NM_001329947.1:c.3781+2T>C	NP_001316876.1:n.3781+2T>C
NM_001329947.2:c.3781+2T>C	NP_001316876.1:n.3781+2T>C
NM_001364700.1:c.3526+2T>C	NP_001351629.1:n.3526+2T>C
NM_001364701.1:c.3526+2T>C	NP_001351630.1:n.3526+2T>C
NM_001364701.2:c.3526+2T>C	NP_001351630.1:n.3526+2T>C
NM_014749.3:c.3553+2T>C	NP_055564.3:n.3553+2T>C
NM_014749.4:c.3553+2T>C	NP_055564.3:n.3553+2T>C
NM_014749.5:c.3553+2T>C	NP_055564.3:n.3553+2T>C
ENST00000261244.9:c.3553+2T>C	ENSP00000261244.5:n.3553+2T>C
ENST00000354386.10:c.3940+2T>C	ENSP00000346359.6:n.3940+2T>C
ENST00000423743.7:c.3649+2T>C	ENSP00000399427.3:n.3649+2T>C
ENST00000538571.6:n.3371+2T>C
ENST00000556134.5:c.3649+2T>C	ENSP00000452351.2:n.3649+2T>C
ENST00000619416.4:c.3736+2T>C	ENSP00000478083.1:n.3736+2T>C
ENST00000619722.4:c.3526+2T>C	ENSP00000481936.1:n.3526+2T>C
ENST00000619722.5:c.3526+2T>C	ENSP00000481936.1:n.3526+2T>C
ENST00000650845.1:n.4246+2T>C
ENST00000650904.1:c.3700+2T>C	ENSP00000498606.1:n.3700+2T>C
ENST00000651596.1:c.531+2T>C
ENST00000651759.1:c.2449+2T>C	ENSP00000498415.1:n.2449+2T>C
ENST00000651852.1:c.1300+2T>C	ENSP00000498990.1:n.1300+2T>C
ENST00000651937.1:c.*1984+2T>C	ENSP00000498785.1:n.*1984+2T>C
ENST00000652414.1:c.1885+2T>C	ENSP00000498397.1:n.1885+2T>C
ENST00000652732.1:c.*3266+2T>C	ENSP00000498799.1:n.*3266+2T>C
XM_024449779.1:c.3904+2T>C	XP_024305547.1:n.3904+2T>C
XM_024449780.1:c.3805+2T>C	XP_024305548.1:n.3805+2T>C
XM_024449781.1:c.3904+2T>C	XP_024305549.1:n.3904+2T>C
XM_024449782.1:c.3550+2T>C	XP_024305550.1:n.3550+2T>C
XM_024449783.1:c.3550+2T>C	XP_024305551.1:n.3550+2T>C
XM_024449784.1:c.3550+2T>C	XP_024305552.1:n.3550+2T>C
XM_024449785.1:c.3526+2T>C	XP_024305553.1:n.3526+2T>C
XM_024449787.1:c.3385+2T>C	XP_024305555.1:n.3385+2T>C
XM_024449788.1:c.3361+2T>C	XP_024305556.1:n.3361+2T>C
XM_024449789.1:c.3361+2T>C	XP_024305557.1:n.3361+2T>C
XM_024449791.1:c.3805+2T>C	XP_024305559.1:n.3805+2T>C