Canonical Allele Identifier: CA389875249

Gene: KIAA0586

Linked Data

• MyVariant Identifiers: chr14:g.58934545T>C (hg19) ; chr14:g.58467827T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58467827T>C , CM000676.2:g.58467827T>C	GRCh38
NC_000014.8:g.58934545T>C , CM000676.1:g.58934545T>C	GRCh37
NC_000014.7:g.58004298T>C	NCBI36
NG_051335.2:g.45443T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619722.5:c.2092T>C	ENSP00000481936.1:p.Ser698Pro
ENST00000650845.1:n.2893T>C
ENST00000650904.1:c.2347T>C	ENSP00000498606.1:p.Ser783Pro
ENST00000651759.1:c.1096T>C	ENSP00000498415.1:p.Ser366Pro
ENST00000651937.1:c.*428T>C	ENSP00000498785.1:n.*428T>C
ENST00000652326.2:c.2347T>C MANE Select	ENSP00000498929.1:p.Ser783Pro
ENST00000652414.1:c.451T>C	ENSP00000498397.1:p.Ser151Pro
ENST00000652732.1:c.*1913T>C	ENSP00000498799.1:n.*1913T>C
ENST00000261244.9:c.2119T>C	ENSP00000261244.5:p.Ser707Pro
ENST00000354386.10:c.2506T>C	ENSP00000346359.6:p.Ser836Pro
ENST00000423743.7:c.2215T>C	ENSP00000399427.3:p.Ser739Pro
ENST00000538571.6:n.1937T>C
ENST00000556134.5:c.2215T>C	ENSP00000452351.2:p.Ser739Pro
ENST00000619416.4:c.2302T>C	ENSP00000478083.1:p.Ser768Pro
ENST00000619722.4:c.2092T>C	ENSP00000481936.1:p.Ser698Pro
NM_001244189.1:c.2506T>C	NP_001231118.1:p.Ser836Pro
NM_001244190.1:c.2302T>C	NP_001231119.1:p.Ser768Pro
NM_001244191.1:c.2092T>C	NP_001231120.1:p.Ser698Pro
NM_001244192.1:c.2215T>C	NP_001231121.1:p.Ser739Pro
NM_001244193.1:c.1927T>C	NP_001231122.1:p.Ser643Pro
NM_014749.3:c.2119T>C	NP_055564.3:p.Ser707Pro
NM_001329943.2:c.2347T>C	NP_001316872.1:p.Ser783Pro
NM_001329944.1:c.2347T>C	NP_001316873.1:p.Ser783Pro
NM_001329945.1:c.2092T>C	NP_001316874.1:p.Ser698Pro
NM_001329946.1:c.2347T>C	NP_001316875.1:p.Ser783Pro
NM_001329947.1:c.2347T>C	NP_001316876.1:p.Ser783Pro
NM_001364700.1:c.2092T>C	NP_001351629.1:p.Ser698Pro
NM_001364701.1:c.2092T>C	NP_001351630.1:p.Ser698Pro
NM_014749.4:c.2119T>C	NP_055564.3:p.Ser707Pro
XM_024449779.1:c.2470T>C	XP_024305547.1:p.Ser824Pro
XM_024449780.1:c.2371T>C	XP_024305548.1:p.Ser791Pro
XM_024449781.1:c.2470T>C	XP_024305549.1:p.Ser824Pro
XM_024449782.1:c.2116T>C	XP_024305550.1:p.Ser706Pro
XM_024449783.1:c.2116T>C	XP_024305551.1:p.Ser706Pro
XM_024449784.1:c.2116T>C	XP_024305552.1:p.Ser706Pro
XM_024449785.1:c.2092T>C	XP_024305553.1:p.Ser698Pro
XM_024449787.1:c.1951T>C	XP_024305555.1:p.Ser651Pro
XM_024449788.1:c.1927T>C	XP_024305556.1:p.Ser643Pro
XM_024449789.1:c.1927T>C	XP_024305557.1:p.Ser643Pro
XM_024449791.1:c.2371T>C	XP_024305559.1:p.Ser791Pro
NM_001244189.2:c.2506T>C	NP_001231118.1:p.Ser836Pro
NM_001244190.2:c.2302T>C	NP_001231119.1:p.Ser768Pro
NM_001244192.2:c.2215T>C	NP_001231121.1:p.Ser739Pro
NM_001329943.3:c.2347T>C MANE Select	NP_001316872.1:p.Ser783Pro
NM_001329944.2:c.2347T>C	NP_001316873.1:p.Ser783Pro
NM_001329945.2:c.2092T>C	NP_001316874.1:p.Ser698Pro
NM_001329946.2:c.2347T>C	NP_001316875.1:p.Ser783Pro
NM_001329947.2:c.2347T>C	NP_001316876.1:p.Ser783Pro
NM_001364701.2:c.2092T>C	NP_001351630.1:p.Ser698Pro
NM_014749.5:c.2119T>C	NP_055564.3:p.Ser707Pro
NM_001244191.2:c.2092T>C	NP_001231120.1:p.Ser698Pro
NM_001244193.2:c.1927T>C	NP_001231122.1:p.Ser643Pro