Canonical Allele Identifier: CA7206458
Community Standard Title: NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu)
Gene: KIAA0586 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58547913C>T , CM000676.2:g.58547913C>T GRCh38
NC_000014.8:g.59014631C>T , CM000676.1:g.59014631C>T GRCh37
NC_000014.7:g.58084384C>T NCBI36
NG_051335.2:g.125529C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001329943.3:c.4628C>T MANE Select NP_001316872.1:p.Ser1543Leu
ENST00000652326.2:c.4628C>T MANE Select ENSP00000498929.1:p.Ser1543Leu
NM_001244189.1:c.4872C>T NP_001231118.1:p.Phe1624=
NM_001244189.2:c.4872C>T NP_001231118.1:p.Phe1624=
NM_001244190.1:c.4583C>T NP_001231119.1:p.Ser1528Leu
NM_001244190.2:c.4583C>T NP_001231119.1:p.Ser1528Leu
NM_001244191.1:c.4373C>T NP_001231120.1:p.Ser1458Leu
NM_001244191.2:c.4373C>T NP_001231120.1:p.Ser1458Leu
NM_001244192.1:c.4496C>T NP_001231121.1:p.Ser1499Leu
NM_001244192.2:c.4496C>T NP_001231121.1:p.Ser1499Leu
NM_001329943.2:c.4628C>T NP_001316872.1:p.Ser1543Leu
NM_001329944.1:c.4713C>T NP_001316873.1:p.Phe1571=
NM_001329944.2:c.4713C>T NP_001316873.1:p.Phe1571=
NM_001329945.1:c.4307C>T NP_001316874.1:p.Ser1436Leu
NM_001329945.2:c.4307C>T NP_001316874.1:p.Ser1436Leu
NM_001329946.1:c.4562C>T NP_001316875.1:p.Ser1521Leu
NM_001329946.2:c.4562C>T NP_001316875.1:p.Ser1521Leu
NM_001329947.1:c.4496C>T NP_001316876.1:p.Ser1499Leu
NM_001329947.2:c.4496C>T NP_001316876.1:p.Ser1499Leu
NM_001364701.1:c.4373C>T NP_001351630.1:p.Ser1458Leu
NM_001364701.2:c.4373C>T NP_001351630.1:p.Ser1458Leu
NM_014749.3:c.4400C>T NP_055564.3:p.Ser1467Leu
NM_014749.4:c.4400C>T NP_055564.3:p.Ser1467Leu
NM_014749.5:c.4400C>T NP_055564.3:p.Ser1467Leu
ENST00000261244.9:c.4400C>T ENSP00000261244.5:p.Ser1467Leu
ENST00000354386.10:c.4872C>T ENSP00000346359.6:p.Phe1624=
ENST00000423743.7:c.4496C>T ENSP00000399427.3:p.Ser1499Leu
ENST00000555397.1:c.608C>T ENSP00000451356.1:p.Ser203Leu
ENST00000556134.5:c.4496C>T ENSP00000452351.2:p.Ser1499Leu
ENST00000556235.1:n.403C>T
ENST00000619416.4:c.4583C>T ENSP00000478083.1:p.Ser1528Leu
ENST00000619722.4:c.4373C>T ENSP00000481936.1:p.Ser1458Leu
ENST00000619722.5:c.4373C>T ENSP00000481936.1:p.Ser1458Leu
ENST00000650904.1:c.4547C>T ENSP00000498606.1:p.Ser1516Leu
ENST00000651852.1:c.2232C>T ENSP00000498990.1:p.Phe744=
ENST00000651937.1:c.*2963C>T ENSP00000498785.1:n.*2963C>T
XM_024449779.1:c.4836C>T XP_024305547.1:p.Phe1612=
XM_024449780.1:c.4737C>T XP_024305548.1:p.Phe1579=
XM_024449781.1:c.4751C>T XP_024305549.1:p.Ser1584Leu
XM_024449782.1:c.4482C>T XP_024305550.1:p.Phe1494=
XM_024449783.1:c.4482C>T XP_024305551.1:p.Phe1494=
XM_024449784.1:c.4482C>T XP_024305552.1:p.Phe1494=
XM_024449785.1:c.4458C>T XP_024305553.1:p.Phe1486=
XM_024449787.1:c.4317C>T XP_024305555.1:p.Phe1439=
XM_024449788.1:c.4293C>T XP_024305556.1:p.Phe1431=
XM_024449789.1:c.4293C>T XP_024305557.1:p.Phe1431=
XM_024449791.1:c.4586C>T XP_024305559.1:p.Ser1529Leu