Canonical Allele Identifier: CA486542321

Gene: KIAA0586

Linked Data

• MyVariant Identifiers: chr14:g.58934469T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58467751T>C , CM000676.2:g.58467751T>C	GRCh38
NC_000014.8:g.58934469T>C , CM000676.1:g.58934469T>C	GRCh37
NC_000014.7:g.58004222T>C	NCBI36
NG_051335.2:g.45367T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619722.5:c.2016T>C	ENSP00000481936.1:p.Asn672=
ENST00000650845.1:n.2817T>C
ENST00000650904.1:c.2271T>C	ENSP00000498606.1:p.Asn757=
ENST00000651759.1:c.1020T>C	ENSP00000498415.1:p.Asn340=
ENST00000651937.1:c.*352T>C	ENSP00000498785.1:n.*352T>C
ENST00000652326.2:c.2271T>C MANE Select	ENSP00000498929.1:p.Asn757=
ENST00000652414.1:c.375T>C	ENSP00000498397.1:p.Asn125=
ENST00000652732.1:c.*1837T>C	ENSP00000498799.1:n.*1837T>C
ENST00000261244.9:c.2043T>C	ENSP00000261244.5:p.Asn681=
ENST00000354386.10:c.2430T>C	ENSP00000346359.6:p.Asn810=
ENST00000423743.7:c.2139T>C	ENSP00000399427.3:p.Asn713=
ENST00000538571.6:n.1861T>C
ENST00000556134.5:c.2139T>C	ENSP00000452351.2:p.Asn713=
ENST00000619416.4:c.2226T>C	ENSP00000478083.1:p.Asn742=
ENST00000619722.4:c.2016T>C	ENSP00000481936.1:p.Asn672=
NM_001244189.1:c.2430T>C	NP_001231118.1:p.Asn810=
NM_001244190.1:c.2226T>C	NP_001231119.1:p.Asn742=
NM_001244191.1:c.2016T>C	NP_001231120.1:p.Asn672=
NM_001244192.1:c.2139T>C	NP_001231121.1:p.Asn713=
NM_001244193.1:c.1851T>C	NP_001231122.1:p.Asn617=
NM_014749.3:c.2043T>C	NP_055564.3:p.Asn681=
NM_001329943.2:c.2271T>C	NP_001316872.1:p.Asn757=
NM_001329944.1:c.2271T>C	NP_001316873.1:p.Asn757=
NM_001329945.1:c.2016T>C	NP_001316874.1:p.Asn672=
NM_001329946.1:c.2271T>C	NP_001316875.1:p.Asn757=
NM_001329947.1:c.2271T>C	NP_001316876.1:p.Asn757=
NM_001364700.1:c.2016T>C	NP_001351629.1:p.Asn672=
NM_001364701.1:c.2016T>C	NP_001351630.1:p.Asn672=
NM_014749.4:c.2043T>C	NP_055564.3:p.Asn681=
XM_024449779.1:c.2394T>C	XP_024305547.1:p.Asn798=
XM_024449780.1:c.2295T>C	XP_024305548.1:p.Asn765=
XM_024449781.1:c.2394T>C	XP_024305549.1:p.Asn798=
XM_024449782.1:c.2040T>C	XP_024305550.1:p.Asn680=
XM_024449783.1:c.2040T>C	XP_024305551.1:p.Asn680=
XM_024449784.1:c.2040T>C	XP_024305552.1:p.Asn680=
XM_024449785.1:c.2016T>C	XP_024305553.1:p.Asn672=
XM_024449787.1:c.1875T>C	XP_024305555.1:p.Asn625=
XM_024449788.1:c.1851T>C	XP_024305556.1:p.Asn617=
XM_024449789.1:c.1851T>C	XP_024305557.1:p.Asn617=
XM_024449791.1:c.2295T>C	XP_024305559.1:p.Asn765=
NM_001244189.2:c.2430T>C	NP_001231118.1:p.Asn810=
NM_001244190.2:c.2226T>C	NP_001231119.1:p.Asn742=
NM_001244192.2:c.2139T>C	NP_001231121.1:p.Asn713=
NM_001329943.3:c.2271T>C MANE Select	NP_001316872.1:p.Asn757=
NM_001329944.2:c.2271T>C	NP_001316873.1:p.Asn757=
NM_001329945.2:c.2016T>C	NP_001316874.1:p.Asn672=
NM_001329946.2:c.2271T>C	NP_001316875.1:p.Asn757=
NM_001329947.2:c.2271T>C	NP_001316876.1:p.Asn757=
NM_001364701.2:c.2016T>C	NP_001351630.1:p.Asn672=
NM_014749.5:c.2043T>C	NP_055564.3:p.Asn681=
NM_001244191.2:c.2016T>C	NP_001231120.1:p.Asn672=
NM_001244193.2:c.1851T>C	NP_001231122.1:p.Asn617=