Canonical Allele Identifier: CA7206408

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58540113C>T , CM000676.2:g.58540113C>T	GRCh38
NC_000014.8:g.59006831C>T , CM000676.1:g.59006831C>T	GRCh37
NC_000014.7:g.58076584C>T	NCBI36
NG_051335.2:g.117729C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.4472C>T MANE Select	NP_001316872.1:p.Pro1491Leu
ENST00000652326.2:c.4472C>T MANE Select	ENSP00000498929.1:p.Pro1491Leu
NM_001244189.1:c.4631C>T	NP_001231118.1:p.Pro1544Leu
NM_001244189.2:c.4631C>T	NP_001231118.1:p.Pro1544Leu
NM_001244190.1:c.4427C>T	NP_001231119.1:p.Pro1476Leu
NM_001244190.2:c.4427C>T	NP_001231119.1:p.Pro1476Leu
NM_001244191.1:c.4217C>T	NP_001231120.1:p.Pro1406Leu
NM_001244191.2:c.4217C>T	NP_001231120.1:p.Pro1406Leu
NM_001244192.1:c.4340C>T	NP_001231121.1:p.Pro1447Leu
NM_001244192.2:c.4340C>T	NP_001231121.1:p.Pro1447Leu
NM_001329943.2:c.4472C>T	NP_001316872.1:p.Pro1491Leu
NM_001329944.1:c.4472C>T	NP_001316873.1:p.Pro1491Leu
NM_001329944.2:c.4472C>T	NP_001316873.1:p.Pro1491Leu
NM_001329945.1:c.4175-7668C>T	NP_001316874.1:n.4175-7668C>T
NM_001329945.2:c.4175-7668C>T	NP_001316874.1:n.4175-7668C>T
NM_001329946.1:c.4430-7668C>T	NP_001316875.1:n.4430-7668C>T
NM_001329946.2:c.4430-7668C>T	NP_001316875.1:n.4430-7668C>T
NM_001329947.1:c.4340C>T	NP_001316876.1:p.Pro1447Leu
NM_001329947.2:c.4340C>T	NP_001316876.1:p.Pro1447Leu
NM_001364701.1:c.4217C>T	NP_001351630.1:p.Pro1406Leu
NM_001364701.2:c.4217C>T	NP_001351630.1:p.Pro1406Leu
NM_014749.3:c.4244C>T	NP_055564.3:p.Pro1415Leu
NM_014749.4:c.4244C>T	NP_055564.3:p.Pro1415Leu
NM_014749.5:c.4244C>T	NP_055564.3:p.Pro1415Leu
ENST00000261244.9:c.4244C>T	ENSP00000261244.5:p.Pro1415Leu
ENST00000354386.10:c.4631C>T	ENSP00000346359.6:p.Pro1544Leu
ENST00000423743.7:c.4340C>T	ENSP00000399427.3:p.Pro1447Leu
ENST00000555397.1:c.476-7668C>T	ENSP00000451356.1:n.476-7668C>T
ENST00000556134.5:c.4340C>T	ENSP00000452351.2:p.Pro1447Leu
ENST00000556235.1:n.247C>T
ENST00000619416.4:c.4427C>T	ENSP00000478083.1:p.Pro1476Leu
ENST00000619722.4:c.4217C>T	ENSP00000481936.1:p.Pro1406Leu
ENST00000619722.5:c.4217C>T	ENSP00000481936.1:p.Pro1406Leu
ENST00000650904.1:c.4391C>T	ENSP00000498606.1:p.Pro1464Leu
ENST00000651852.1:c.2100-7668C>T	ENSP00000498990.1:n.2100-7668C>T
ENST00000651937.1:c.*2807C>T	ENSP00000498785.1:n.*2807C>T
XM_024449779.1:c.4595C>T	XP_024305547.1:p.Pro1532Leu
XM_024449780.1:c.4496C>T	XP_024305548.1:p.Pro1499Leu
XM_024449781.1:c.4595C>T	XP_024305549.1:p.Pro1532Leu
XM_024449782.1:c.4241C>T	XP_024305550.1:p.Pro1414Leu
XM_024449783.1:c.4241C>T	XP_024305551.1:p.Pro1414Leu
XM_024449784.1:c.4241C>T	XP_024305552.1:p.Pro1414Leu
XM_024449785.1:c.4217C>T	XP_024305553.1:p.Pro1406Leu
XM_024449787.1:c.4076C>T	XP_024305555.1:p.Pro1359Leu
XM_024449788.1:c.4052C>T	XP_024305556.1:p.Pro1351Leu
XM_024449789.1:c.4052C>T	XP_024305557.1:p.Pro1351Leu
XM_024449791.1:c.4454-7668C>T	XP_024305559.1:n.4454-7668C>T