Canonical Allele Identifier: CA389875047

Gene: KIAA0586

Linked Data

• MyVariant Identifiers: chr14:g.58934488G>C (hg19) ; chr14:g.58467770G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58467770G>C , CM000676.2:g.58467770G>C	GRCh38
NC_000014.8:g.58934488G>C , CM000676.1:g.58934488G>C	GRCh37
NC_000014.7:g.58004241G>C	NCBI36
NG_051335.2:g.45386G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619722.5:c.2035G>C	ENSP00000481936.1:p.Ala679Pro
ENST00000650845.1:n.2836G>C
ENST00000650904.1:c.2290G>C	ENSP00000498606.1:p.Ala764Pro
ENST00000651759.1:c.1039G>C	ENSP00000498415.1:p.Ala347Pro
ENST00000651937.1:c.*371G>C	ENSP00000498785.1:n.*371G>C
ENST00000652326.2:c.2290G>C MANE Select	ENSP00000498929.1:p.Ala764Pro
ENST00000652414.1:c.394G>C	ENSP00000498397.1:p.Ala132Pro
ENST00000652732.1:c.*1856G>C	ENSP00000498799.1:n.*1856G>C
ENST00000261244.9:c.2062G>C	ENSP00000261244.5:p.Ala688Pro
ENST00000354386.10:c.2449G>C	ENSP00000346359.6:p.Ala817Pro
ENST00000423743.7:c.2158G>C	ENSP00000399427.3:p.Ala720Pro
ENST00000538571.6:n.1880G>C
ENST00000556134.5:c.2158G>C	ENSP00000452351.2:p.Ala720Pro
ENST00000619416.4:c.2245G>C	ENSP00000478083.1:p.Ala749Pro
ENST00000619722.4:c.2035G>C	ENSP00000481936.1:p.Ala679Pro
NM_001244189.1:c.2449G>C	NP_001231118.1:p.Ala817Pro
NM_001244190.1:c.2245G>C	NP_001231119.1:p.Ala749Pro
NM_001244191.1:c.2035G>C	NP_001231120.1:p.Ala679Pro
NM_001244192.1:c.2158G>C	NP_001231121.1:p.Ala720Pro
NM_001244193.1:c.1870G>C	NP_001231122.1:p.Ala624Pro
NM_014749.3:c.2062G>C	NP_055564.3:p.Ala688Pro
NM_001329943.2:c.2290G>C	NP_001316872.1:p.Ala764Pro
NM_001329944.1:c.2290G>C	NP_001316873.1:p.Ala764Pro
NM_001329945.1:c.2035G>C	NP_001316874.1:p.Ala679Pro
NM_001329946.1:c.2290G>C	NP_001316875.1:p.Ala764Pro
NM_001329947.1:c.2290G>C	NP_001316876.1:p.Ala764Pro
NM_001364700.1:c.2035G>C	NP_001351629.1:p.Ala679Pro
NM_001364701.1:c.2035G>C	NP_001351630.1:p.Ala679Pro
NM_014749.4:c.2062G>C	NP_055564.3:p.Ala688Pro
XM_024449779.1:c.2413G>C	XP_024305547.1:p.Ala805Pro
XM_024449780.1:c.2314G>C	XP_024305548.1:p.Ala772Pro
XM_024449781.1:c.2413G>C	XP_024305549.1:p.Ala805Pro
XM_024449782.1:c.2059G>C	XP_024305550.1:p.Ala687Pro
XM_024449783.1:c.2059G>C	XP_024305551.1:p.Ala687Pro
XM_024449784.1:c.2059G>C	XP_024305552.1:p.Ala687Pro
XM_024449785.1:c.2035G>C	XP_024305553.1:p.Ala679Pro
XM_024449787.1:c.1894G>C	XP_024305555.1:p.Ala632Pro
XM_024449788.1:c.1870G>C	XP_024305556.1:p.Ala624Pro
XM_024449789.1:c.1870G>C	XP_024305557.1:p.Ala624Pro
XM_024449791.1:c.2314G>C	XP_024305559.1:p.Ala772Pro
NM_001244189.2:c.2449G>C	NP_001231118.1:p.Ala817Pro
NM_001244190.2:c.2245G>C	NP_001231119.1:p.Ala749Pro
NM_001244192.2:c.2158G>C	NP_001231121.1:p.Ala720Pro
NM_001329943.3:c.2290G>C MANE Select	NP_001316872.1:p.Ala764Pro
NM_001329944.2:c.2290G>C	NP_001316873.1:p.Ala764Pro
NM_001329945.2:c.2035G>C	NP_001316874.1:p.Ala679Pro
NM_001329946.2:c.2290G>C	NP_001316875.1:p.Ala764Pro
NM_001329947.2:c.2290G>C	NP_001316876.1:p.Ala764Pro
NM_001364701.2:c.2035G>C	NP_001351630.1:p.Ala679Pro
NM_014749.5:c.2062G>C	NP_055564.3:p.Ala688Pro
NM_001244191.2:c.2035G>C	NP_001231120.1:p.Ala679Pro
NM_001244193.2:c.1870G>C	NP_001231122.1:p.Ala624Pro