Canonical Allele Identifier: CA389862209

Gene: KIAA0586

Linked Data

• MyVariant Identifiers: chr14:g.58910686G>T (hg19) ; chr14:g.58443968G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58443968G>T , CM000676.2:g.58443968G>T	GRCh38
NC_000014.8:g.58910686G>T , CM000676.1:g.58910686G>T	GRCh37
NC_000014.7:g.57980439G>T	NCBI36
NG_051335.2:g.21584G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555203.6:n.290G>T
ENST00000619722.5:c.345G>T	ENSP00000481936.1:p.Leu115Phe
ENST00000650845.1:n.1146G>T
ENST00000650904.1:c.600G>T	ENSP00000498606.1:p.Leu200Phe
ENST00000651937.1:c.555G>T	ENSP00000498785.1:p.Leu185Phe
ENST00000652120.1:n.506G>T
ENST00000652326.2:c.600G>T MANE Select	ENSP00000498929.1:p.Leu200Phe
ENST00000652732.1:c.*166G>T	ENSP00000498799.1:n.*166G>T
ENST00000674802.1:n.832G>T
ENST00000261244.9:c.600G>T	ENSP00000261244.5:p.Leu200Phe
ENST00000354386.10:c.759G>T	ENSP00000346359.6:p.Leu253Phe
ENST00000423743.7:c.468G>T	ENSP00000399427.3:p.Leu156Phe
ENST00000538571.6:n.190G>T
ENST00000554463.5:c.345G>T	ENSP00000451831.1:p.Leu115Phe
ENST00000555203.5:c.*166G>T	ENSP00000452536.1:n.*166G>T
ENST00000555833.5:c.345G>T	ENSP00000450855.1:p.Leu115Phe
ENST00000556134.5:c.468G>T	ENSP00000452351.2:p.Leu156Phe
ENST00000557590.5:n.563G>T
ENST00000619416.4:c.555G>T	ENSP00000478083.1:p.Leu185Phe
ENST00000619722.4:c.345G>T	ENSP00000481936.1:p.Leu115Phe
NM_001244189.1:c.759G>T	NP_001231118.1:p.Leu253Phe
NM_001244190.1:c.555G>T	NP_001231119.1:p.Leu185Phe
NM_001244191.1:c.345G>T	NP_001231120.1:p.Leu115Phe
NM_001244192.1:c.468G>T	NP_001231121.1:p.Leu156Phe
NM_001244193.1:c.180G>T	NP_001231122.1:p.Leu60Phe
NM_014749.3:c.600G>T	NP_055564.3:p.Leu200Phe
NM_001329943.2:c.600G>T	NP_001316872.1:p.Leu200Phe
NM_001329944.1:c.600G>T	NP_001316873.1:p.Leu200Phe
NM_001329945.1:c.345G>T	NP_001316874.1:p.Leu115Phe
NM_001329946.1:c.600G>T	NP_001316875.1:p.Leu200Phe
NM_001329947.1:c.600G>T	NP_001316876.1:p.Leu200Phe
NM_001364700.1:c.345G>T	NP_001351629.1:p.Leu115Phe
NM_001364701.1:c.345G>T	NP_001351630.1:p.Leu115Phe
NM_014749.4:c.600G>T	NP_055564.3:p.Leu200Phe
XM_024449779.1:c.723G>T	XP_024305547.1:p.Leu241Phe
XM_024449780.1:c.600G>T	XP_024305548.1:p.Leu200Phe
XM_024449781.1:c.723G>T	XP_024305549.1:p.Leu241Phe
XM_024449782.1:c.345G>T	XP_024305550.1:p.Leu115Phe
XM_024449783.1:c.345G>T	XP_024305551.1:p.Leu115Phe
XM_024449784.1:c.345G>T	XP_024305552.1:p.Leu115Phe
XM_024449785.1:c.345G>T	XP_024305553.1:p.Leu115Phe
XM_024449787.1:c.204G>T	XP_024305555.1:p.Leu68Phe
XM_024449788.1:c.180G>T	XP_024305556.1:p.Leu60Phe
XM_024449789.1:c.180G>T	XP_024305557.1:p.Leu60Phe
XM_024449791.1:c.600G>T	XP_024305559.1:p.Leu200Phe
NM_001244189.2:c.759G>T	NP_001231118.1:p.Leu253Phe
NM_001244190.2:c.555G>T	NP_001231119.1:p.Leu185Phe
NM_001244192.2:c.468G>T	NP_001231121.1:p.Leu156Phe
NM_001329943.3:c.600G>T MANE Select	NP_001316872.1:p.Leu200Phe
NM_001329944.2:c.600G>T	NP_001316873.1:p.Leu200Phe
NM_001329945.2:c.345G>T	NP_001316874.1:p.Leu115Phe
NM_001329946.2:c.600G>T	NP_001316875.1:p.Leu200Phe
NM_001329947.2:c.600G>T	NP_001316876.1:p.Leu200Phe
NM_001364701.2:c.345G>T	NP_001351630.1:p.Leu115Phe
NM_014749.5:c.600G>T	NP_055564.3:p.Leu200Phe
NM_001244191.2:c.345G>T	NP_001231120.1:p.Leu115Phe
NM_001244193.2:c.180G>T	NP_001231122.1:p.Leu60Phe