Canonical Allele Identifier: CA7205280

Gene: KIAA0586

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58428446T>C , CM000676.2:g.58428446T>C	GRCh38
NC_000014.8:g.58895164T>C , CM000676.1:g.58895164T>C	GRCh37
NC_000014.7:g.57964917T>C	NCBI36
NG_051335.2:g.6062T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001329943.3:c.182T>C MANE Select	NP_001316872.1:p.Leu61Ser
ENST00000652326.2:c.182T>C MANE Select	ENSP00000498929.1:p.Leu61Ser
NM_001244189.1:c.218T>C	NP_001231118.1:p.Leu73Ser
NM_001244189.2:c.218T>C	NP_001231118.1:p.Leu73Ser
NM_001244190.1:c.137T>C	NP_001231119.1:p.Leu46Ser
NM_001244190.2:c.137T>C	NP_001231119.1:p.Leu46Ser
NM_001244191.1:c.-57+809T>C	NP_001231120.1:n.-57+809T>C
NM_001244191.2:c.-57+809T>C	NP_001231120.1:n.-57+809T>C
NM_001244192.1:c.-57+809T>C	NP_001231121.1:n.-57+809T>C
NM_001244192.2:c.-57+809T>C	NP_001231121.1:n.-57+809T>C
NM_001329943.2:c.182T>C	NP_001316872.1:p.Leu61Ser
NM_001329944.1:c.182T>C	NP_001316873.1:p.Leu61Ser
NM_001329944.2:c.182T>C	NP_001316873.1:p.Leu61Ser
NM_001329945.1:c.-57+633T>C	NP_001316874.1:n.-57+633T>C
NM_001329945.2:c.-57+633T>C	NP_001316874.1:n.-57+633T>C
NM_001329946.1:c.182T>C	NP_001316875.1:p.Leu61Ser
NM_001329946.2:c.182T>C	NP_001316875.1:p.Leu61Ser
NM_001329947.1:c.182T>C	NP_001316876.1:p.Leu61Ser
NM_001329947.2:c.182T>C	NP_001316876.1:p.Leu61Ser
NM_001364700.1:c.-57+633T>C	NP_001351629.1:n.-57+633T>C
NM_001364701.1:c.-57+633T>C	NP_001351630.1:n.-57+633T>C
NM_001364701.2:c.-57+633T>C	NP_001351630.1:n.-57+633T>C
NM_014749.3:c.182T>C	NP_055564.3:p.Leu61Ser
NM_014749.4:c.182T>C	NP_055564.3:p.Leu61Ser
NM_014749.5:c.182T>C	NP_055564.3:p.Leu61Ser
ENST00000261244.9:c.182T>C	ENSP00000261244.5:p.Leu61Ser
ENST00000354386.10:c.218T>C	ENSP00000346359.6:p.Leu73Ser
ENST00000423743.7:c.-57+809T>C	ENSP00000399427.3:n.-57+809T>C
ENST00000554463.5:c.-57+589T>C	ENSP00000451831.1:n.-57+589T>C
ENST00000555203.5:c.-57+633T>C	ENSP00000452536.1:n.-57+633T>C
ENST00000555833.5:c.-57+633T>C	ENSP00000450855.1:n.-57+633T>C
ENST00000556134.5:c.-74T>C	ENSP00000452351.2:n.-74T>C
ENST00000557192.1:n.92+633T>C
ENST00000619416.4:c.137T>C	ENSP00000478083.1:p.Leu46Ser
ENST00000619722.4:c.-57+809T>C	ENSP00000481936.1:n.-57+809T>C
ENST00000619722.5:c.-57+809T>C	ENSP00000481936.1:n.-57+809T>C
ENST00000650845.1:n.728T>C
ENST00000650904.1:c.182T>C	ENSP00000498606.1:p.Leu61Ser
ENST00000651937.1:c.137T>C	ENSP00000498785.1:p.Leu46Ser
ENST00000652732.1:c.-57+633T>C	ENSP00000498799.1:n.-57+633T>C
XM_024449779.1:c.182T>C	XP_024305547.1:p.Leu61Ser
XM_024449780.1:c.182T>C	XP_024305548.1:p.Leu61Ser
XM_024449781.1:c.182T>C	XP_024305549.1:p.Leu61Ser
XM_024449782.1:c.-57+589T>C	XP_024305550.1:n.-57+589T>C
XM_024449783.1:c.-57+633T>C	XP_024305551.1:n.-57+633T>C
XM_024449784.1:c.-57+809T>C	XP_024305552.1:n.-57+809T>C
XM_024449785.1:c.-57+633T>C	XP_024305553.1:n.-57+633T>C
XM_024449791.1:c.182T>C	XP_024305559.1:p.Leu61Ser