Canonical Allele Identifier: CA486542376
Gene: KIAA0586 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.58934526G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58467808G>T , CM000676.2:g.58467808G>T GRCh38
NC_000014.8:g.58934526G>T , CM000676.1:g.58934526G>T GRCh37
NC_000014.7:g.58004279G>T NCBI36
NG_051335.2:g.45424G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000619722.5:c.2073G>T ENSP00000481936.1:p.Val691=
ENST00000650845.1:n.2874G>T
ENST00000650904.1:c.2328G>T ENSP00000498606.1:p.Val776=
ENST00000651759.1:c.1077G>T ENSP00000498415.1:p.Val359=
ENST00000651937.1:c.*409G>T ENSP00000498785.1:n.*409G>T
ENST00000652326.2:c.2328G>T MANE Select ENSP00000498929.1:p.Val776=
ENST00000652414.1:c.432G>T ENSP00000498397.1:p.Val144=
ENST00000652732.1:c.*1894G>T ENSP00000498799.1:n.*1894G>T
ENST00000261244.9:c.2100G>T ENSP00000261244.5:p.Val700=
ENST00000354386.10:c.2487G>T ENSP00000346359.6:p.Val829=
ENST00000423743.7:c.2196G>T ENSP00000399427.3:p.Val732=
ENST00000538571.6:n.1918G>T
ENST00000556134.5:c.2196G>T ENSP00000452351.2:p.Val732=
ENST00000619416.4:c.2283G>T ENSP00000478083.1:p.Val761=
ENST00000619722.4:c.2073G>T ENSP00000481936.1:p.Val691=
NM_001244189.1:c.2487G>T NP_001231118.1:p.Val829=
NM_001244190.1:c.2283G>T NP_001231119.1:p.Val761=
NM_001244191.1:c.2073G>T NP_001231120.1:p.Val691=
NM_001244192.1:c.2196G>T NP_001231121.1:p.Val732=
NM_001244193.1:c.1908G>T NP_001231122.1:p.Val636=
NM_014749.3:c.2100G>T NP_055564.3:p.Val700=
NM_001329943.2:c.2328G>T NP_001316872.1:p.Val776=
NM_001329944.1:c.2328G>T NP_001316873.1:p.Val776=
NM_001329945.1:c.2073G>T NP_001316874.1:p.Val691=
NM_001329946.1:c.2328G>T NP_001316875.1:p.Val776=
NM_001329947.1:c.2328G>T NP_001316876.1:p.Val776=
NM_001364700.1:c.2073G>T NP_001351629.1:p.Val691=
NM_001364701.1:c.2073G>T NP_001351630.1:p.Val691=
NM_014749.4:c.2100G>T NP_055564.3:p.Val700=
XM_024449779.1:c.2451G>T XP_024305547.1:p.Val817=
XM_024449780.1:c.2352G>T XP_024305548.1:p.Val784=
XM_024449781.1:c.2451G>T XP_024305549.1:p.Val817=
XM_024449782.1:c.2097G>T XP_024305550.1:p.Val699=
XM_024449783.1:c.2097G>T XP_024305551.1:p.Val699=
XM_024449784.1:c.2097G>T XP_024305552.1:p.Val699=
XM_024449785.1:c.2073G>T XP_024305553.1:p.Val691=
XM_024449787.1:c.1932G>T XP_024305555.1:p.Val644=
XM_024449788.1:c.1908G>T XP_024305556.1:p.Val636=
XM_024449789.1:c.1908G>T XP_024305557.1:p.Val636=
XM_024449791.1:c.2352G>T XP_024305559.1:p.Val784=
NM_001244189.2:c.2487G>T NP_001231118.1:p.Val829=
NM_001244190.2:c.2283G>T NP_001231119.1:p.Val761=
NM_001244192.2:c.2196G>T NP_001231121.1:p.Val732=
NM_001329943.3:c.2328G>T MANE Select NP_001316872.1:p.Val776=
NM_001329944.2:c.2328G>T NP_001316873.1:p.Val776=
NM_001329945.2:c.2073G>T NP_001316874.1:p.Val691=
NM_001329946.2:c.2328G>T NP_001316875.1:p.Val776=
NM_001329947.2:c.2328G>T NP_001316876.1:p.Val776=
NM_001364701.2:c.2073G>T NP_001351630.1:p.Val691=
NM_014749.5:c.2100G>T NP_055564.3:p.Val700=
NM_001244191.2:c.2073G>T NP_001231120.1:p.Val691=
NM_001244193.2:c.1908G>T NP_001231122.1:p.Val636=