Canonical Allele Identifier: CA7205440
Gene: KIAA0586 HGNC NCBI

Linked Data

ClinVar Variation Id: 1448046
dbSNP Id: rs199837404

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58443988T>C , CM000676.2:g.58443988T>C GRCh38
NC_000014.8:g.58910706T>C , CM000676.1:g.58910706T>C GRCh37
NC_000014.7:g.57980459T>C NCBI36
NG_051335.2:g.21604T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555203.6:n.310T>C
ENST00000619722.5:c.365T>C ENSP00000481936.1:p.Val122Ala
ENST00000650845.1:n.1166T>C
ENST00000650904.1:c.620T>C ENSP00000498606.1:p.Val207Ala
ENST00000651937.1:c.575T>C ENSP00000498785.1:p.Val192Ala
ENST00000652120.1:n.526T>C
ENST00000652326.2:c.620T>C MANE Select ENSP00000498929.1:p.Val207Ala
ENST00000652732.1:c.*186T>C ENSP00000498799.1:n.*186T>C
ENST00000674802.1:n.852T>C
ENST00000261244.9:c.620T>C ENSP00000261244.5:p.Val207Ala
ENST00000354386.10:c.779T>C ENSP00000346359.6:p.Val260Ala
ENST00000423743.7:c.488T>C ENSP00000399427.3:p.Val163Ala
ENST00000538571.6:n.210T>C
ENST00000554463.5:c.365T>C ENSP00000451831.1:p.Val122Ala
ENST00000555203.5:c.*186T>C ENSP00000452536.1:n.*186T>C
ENST00000555833.5:c.365T>C ENSP00000450855.1:p.Val122Ala
ENST00000556134.5:c.488T>C ENSP00000452351.2:p.Val163Ala
ENST00000557590.5:n.583T>C
ENST00000619416.4:c.575T>C ENSP00000478083.1:p.Val192Ala
ENST00000619722.4:c.365T>C ENSP00000481936.1:p.Val122Ala
NM_001244189.1:c.779T>C NP_001231118.1:p.Val260Ala
NM_001244190.1:c.575T>C NP_001231119.1:p.Val192Ala
NM_001244191.1:c.365T>C NP_001231120.1:p.Val122Ala
NM_001244192.1:c.488T>C NP_001231121.1:p.Val163Ala
NM_001244193.1:c.200T>C NP_001231122.1:p.Val67Ala
NM_014749.3:c.620T>C NP_055564.3:p.Val207Ala
NM_001329943.2:c.620T>C NP_001316872.1:p.Val207Ala
NM_001329944.1:c.620T>C NP_001316873.1:p.Val207Ala
NM_001329945.1:c.365T>C NP_001316874.1:p.Val122Ala
NM_001329946.1:c.620T>C NP_001316875.1:p.Val207Ala
NM_001329947.1:c.620T>C NP_001316876.1:p.Val207Ala
NM_001364700.1:c.365T>C NP_001351629.1:p.Val122Ala
NM_001364701.1:c.365T>C NP_001351630.1:p.Val122Ala
NM_014749.4:c.620T>C NP_055564.3:p.Val207Ala
XM_024449779.1:c.743T>C XP_024305547.1:p.Val248Ala
XM_024449780.1:c.620T>C XP_024305548.1:p.Val207Ala
XM_024449781.1:c.743T>C XP_024305549.1:p.Val248Ala
XM_024449782.1:c.365T>C XP_024305550.1:p.Val122Ala
XM_024449783.1:c.365T>C XP_024305551.1:p.Val122Ala
XM_024449784.1:c.365T>C XP_024305552.1:p.Val122Ala
XM_024449785.1:c.365T>C XP_024305553.1:p.Val122Ala
XM_024449787.1:c.224T>C XP_024305555.1:p.Val75Ala
XM_024449788.1:c.200T>C XP_024305556.1:p.Val67Ala
XM_024449789.1:c.200T>C XP_024305557.1:p.Val67Ala
XM_024449791.1:c.620T>C XP_024305559.1:p.Val207Ala
NM_001244189.2:c.779T>C NP_001231118.1:p.Val260Ala
NM_001244190.2:c.575T>C NP_001231119.1:p.Val192Ala
NM_001244192.2:c.488T>C NP_001231121.1:p.Val163Ala
NM_001329943.3:c.620T>C MANE Select NP_001316872.1:p.Val207Ala
NM_001329944.2:c.620T>C NP_001316873.1:p.Val207Ala
NM_001329945.2:c.365T>C NP_001316874.1:p.Val122Ala
NM_001329946.2:c.620T>C NP_001316875.1:p.Val207Ala
NM_001329947.2:c.620T>C NP_001316876.1:p.Val207Ala
NM_001364701.2:c.365T>C NP_001351630.1:p.Val122Ala
NM_014749.5:c.620T>C NP_055564.3:p.Val207Ala
NM_001244191.2:c.365T>C NP_001231120.1:p.Val122Ala
NM_001244193.2:c.200T>C NP_001231122.1:p.Val67Ala