Canonical Allele Identifier: CA389875088

Gene: KIAA0586

Linked Data

• MyVariant Identifiers: chr14:g.58934500G>T (hg19) ; chr14:g.58467782G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58467782G>T , CM000676.2:g.58467782G>T	GRCh38
NC_000014.8:g.58934500G>T , CM000676.1:g.58934500G>T	GRCh37
NC_000014.7:g.58004253G>T	NCBI36
NG_051335.2:g.45398G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619722.5:c.2047G>T	ENSP00000481936.1:p.Val683Phe
ENST00000650845.1:n.2848G>T
ENST00000650904.1:c.2302G>T	ENSP00000498606.1:p.Val768Phe
ENST00000651759.1:c.1051G>T	ENSP00000498415.1:p.Val351Phe
ENST00000651937.1:c.*383G>T	ENSP00000498785.1:n.*383G>T
ENST00000652326.2:c.2302G>T MANE Select	ENSP00000498929.1:p.Val768Phe
ENST00000652414.1:c.406G>T	ENSP00000498397.1:p.Val136Phe
ENST00000652732.1:c.*1868G>T	ENSP00000498799.1:n.*1868G>T
ENST00000261244.9:c.2074G>T	ENSP00000261244.5:p.Val692Phe
ENST00000354386.10:c.2461G>T	ENSP00000346359.6:p.Val821Phe
ENST00000423743.7:c.2170G>T	ENSP00000399427.3:p.Val724Phe
ENST00000538571.6:n.1892G>T
ENST00000556134.5:c.2170G>T	ENSP00000452351.2:p.Val724Phe
ENST00000619416.4:c.2257G>T	ENSP00000478083.1:p.Val753Phe
ENST00000619722.4:c.2047G>T	ENSP00000481936.1:p.Val683Phe
NM_001244189.1:c.2461G>T	NP_001231118.1:p.Val821Phe
NM_001244190.1:c.2257G>T	NP_001231119.1:p.Val753Phe
NM_001244191.1:c.2047G>T	NP_001231120.1:p.Val683Phe
NM_001244192.1:c.2170G>T	NP_001231121.1:p.Val724Phe
NM_001244193.1:c.1882G>T	NP_001231122.1:p.Val628Phe
NM_014749.3:c.2074G>T	NP_055564.3:p.Val692Phe
NM_001329943.2:c.2302G>T	NP_001316872.1:p.Val768Phe
NM_001329944.1:c.2302G>T	NP_001316873.1:p.Val768Phe
NM_001329945.1:c.2047G>T	NP_001316874.1:p.Val683Phe
NM_001329946.1:c.2302G>T	NP_001316875.1:p.Val768Phe
NM_001329947.1:c.2302G>T	NP_001316876.1:p.Val768Phe
NM_001364700.1:c.2047G>T	NP_001351629.1:p.Val683Phe
NM_001364701.1:c.2047G>T	NP_001351630.1:p.Val683Phe
NM_014749.4:c.2074G>T	NP_055564.3:p.Val692Phe
XM_024449779.1:c.2425G>T	XP_024305547.1:p.Val809Phe
XM_024449780.1:c.2326G>T	XP_024305548.1:p.Val776Phe
XM_024449781.1:c.2425G>T	XP_024305549.1:p.Val809Phe
XM_024449782.1:c.2071G>T	XP_024305550.1:p.Val691Phe
XM_024449783.1:c.2071G>T	XP_024305551.1:p.Val691Phe
XM_024449784.1:c.2071G>T	XP_024305552.1:p.Val691Phe
XM_024449785.1:c.2047G>T	XP_024305553.1:p.Val683Phe
XM_024449787.1:c.1906G>T	XP_024305555.1:p.Val636Phe
XM_024449788.1:c.1882G>T	XP_024305556.1:p.Val628Phe
XM_024449789.1:c.1882G>T	XP_024305557.1:p.Val628Phe
XM_024449791.1:c.2326G>T	XP_024305559.1:p.Val776Phe
NM_001244189.2:c.2461G>T	NP_001231118.1:p.Val821Phe
NM_001244190.2:c.2257G>T	NP_001231119.1:p.Val753Phe
NM_001244192.2:c.2170G>T	NP_001231121.1:p.Val724Phe
NM_001329943.3:c.2302G>T MANE Select	NP_001316872.1:p.Val768Phe
NM_001329944.2:c.2302G>T	NP_001316873.1:p.Val768Phe
NM_001329945.2:c.2047G>T	NP_001316874.1:p.Val683Phe
NM_001329946.2:c.2302G>T	NP_001316875.1:p.Val768Phe
NM_001329947.2:c.2302G>T	NP_001316876.1:p.Val768Phe
NM_001364701.2:c.2047G>T	NP_001351630.1:p.Val683Phe
NM_014749.5:c.2074G>T	NP_055564.3:p.Val692Phe
NM_001244191.2:c.2047G>T	NP_001231120.1:p.Val683Phe
NM_001244193.2:c.1882G>T	NP_001231122.1:p.Val628Phe