Canonical Allele Identifier: CA389871277

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58459990C>T , CM000676.2:g.58459990C>T	GRCh38
NC_000014.8:g.58926708C>T , CM000676.1:g.58926708C>T	GRCh37
NC_000014.7:g.57996461C>T	NCBI36
NG_051335.2:g.37606C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.1804C>T MANE Select	NP_001316872.1:p.Gln602Ter
ENST00000652326.2:c.1804C>T MANE Select	ENSP00000498929.1:p.Gln602Ter
NM_001244189.1:c.1963C>T	NP_001231118.1:p.Gln655Ter
NM_001244189.2:c.1963C>T	NP_001231118.1:p.Gln655Ter
NM_001244190.1:c.1759C>T	NP_001231119.1:p.Gln587Ter
NM_001244190.2:c.1759C>T	NP_001231119.1:p.Gln587Ter
NM_001244191.1:c.1549C>T	NP_001231120.1:p.Gln517Ter
NM_001244191.2:c.1549C>T	NP_001231120.1:p.Gln517Ter
NM_001244192.1:c.1672C>T	NP_001231121.1:p.Gln558Ter
NM_001244192.2:c.1672C>T	NP_001231121.1:p.Gln558Ter
NM_001244193.1:c.1384C>T	NP_001231122.1:p.Gln462Ter
NM_001244193.2:c.1384C>T	NP_001231122.1:p.Gln462Ter
NM_001329943.2:c.1804C>T	NP_001316872.1:p.Gln602Ter
NM_001329944.1:c.1804C>T	NP_001316873.1:p.Gln602Ter
NM_001329944.2:c.1804C>T	NP_001316873.1:p.Gln602Ter
NM_001329945.1:c.1549C>T	NP_001316874.1:p.Gln517Ter
NM_001329945.2:c.1549C>T	NP_001316874.1:p.Gln517Ter
NM_001329946.1:c.1804C>T	NP_001316875.1:p.Gln602Ter
NM_001329946.2:c.1804C>T	NP_001316875.1:p.Gln602Ter
NM_001329947.1:c.1804C>T	NP_001316876.1:p.Gln602Ter
NM_001329947.2:c.1804C>T	NP_001316876.1:p.Gln602Ter
NM_001364700.1:c.1549C>T	NP_001351629.1:p.Gln517Ter
NM_001364701.1:c.1549C>T	NP_001351630.1:p.Gln517Ter
NM_001364701.2:c.1549C>T	NP_001351630.1:p.Gln517Ter
NM_014749.3:c.1657-996C>T	NP_055564.3:n.1657-996C>T
NM_014749.4:c.1657-996C>T	NP_055564.3:n.1657-996C>T
NM_014749.5:c.1657-996C>T	NP_055564.3:n.1657-996C>T
ENST00000261244.9:c.1657-996C>T	ENSP00000261244.5:n.1657-996C>T
ENST00000354386.10:c.1963C>T	ENSP00000346359.6:p.Gln655Ter
ENST00000423743.7:c.1672C>T	ENSP00000399427.3:p.Gln558Ter
ENST00000538571.6:n.1394C>T
ENST00000556134.5:c.1672C>T	ENSP00000452351.2:p.Gln558Ter
ENST00000619416.4:c.1759C>T	ENSP00000478083.1:p.Gln587Ter
ENST00000619722.4:c.1549C>T	ENSP00000481936.1:p.Gln517Ter
ENST00000619722.5:c.1549C>T	ENSP00000481936.1:p.Gln517Ter
ENST00000650845.1:n.2350C>T
ENST00000650904.1:c.1804C>T	ENSP00000498606.1:p.Gln602Ter
ENST00000651759.1:c.553C>T	ENSP00000498415.1:p.Gln185Ter
ENST00000651937.1:c.1678+81C>T	ENSP00000498785.1:n.1678+81C>T
ENST00000652732.1:c.*1370C>T	ENSP00000498799.1:n.*1370C>T
XM_024449779.1:c.1927C>T	XP_024305547.1:p.Gln643Ter
XM_024449780.1:c.1828C>T	XP_024305548.1:p.Gln610Ter
XM_024449781.1:c.1927C>T	XP_024305549.1:p.Gln643Ter
XM_024449782.1:c.1573C>T	XP_024305550.1:p.Gln525Ter
XM_024449783.1:c.1573C>T	XP_024305551.1:p.Gln525Ter
XM_024449784.1:c.1573C>T	XP_024305552.1:p.Gln525Ter
XM_024449785.1:c.1549C>T	XP_024305553.1:p.Gln517Ter
XM_024449787.1:c.1408C>T	XP_024305555.1:p.Gln470Ter
XM_024449788.1:c.1384C>T	XP_024305556.1:p.Gln462Ter
XM_024449789.1:c.1384C>T	XP_024305557.1:p.Gln462Ter
XM_024449791.1:c.1828C>T	XP_024305559.1:p.Gln610Ter