Canonical Allele Identifier: CA6821223

Gene: CIT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119713562C>T , CM000674.2:g.119713562C>T	GRCh38
NC_000012.11:g.120151367C>T , CM000674.1:g.120151367C>T	GRCh37
NC_000012.10:g.118635750C>T	NCBI36
NG_029792.1:g.168729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392521.7:c.4393G>A MANE Select	ENSP00000376306.2:p.Glu1465Lys
ENST00000543324.2:n.950G>A
ENST00000545913.6:n.4999G>A
ENST00000676693.1:n.1810G>A
ENST00000676833.1:n.3510G>A
ENST00000676849.1:c.3010G>A	ENSP00000503214.1:p.Glu1004Lys
ENST00000677438.1:c.*3499G>A	ENSP00000504095.1:n.*3499G>A
ENST00000677738.1:n.1545G>A
ENST00000677812.1:c.*3613G>A	ENSP00000504400.1:n.*3613G>A
ENST00000677849.1:c.*3499G>A	ENSP00000503820.1:n.*3499G>A
ENST00000677993.1:c.2998G>A	ENSP00000503765.1:p.Glu1000Lys
ENST00000678087.1:c.2884G>A	ENSP00000503863.1:p.Glu962Lys
ENST00000678236.1:n.4296G>A
ENST00000678494.1:c.1227-26528G>A	ENSP00000503854.1:n.1227-26528G>A
ENST00000678652.1:c.3010G>A	ENSP00000504849.1:p.Glu1004Lys
ENST00000678677.1:c.3010G>A	ENSP00000503253.1:p.Glu1004Lys
ENST00000679120.1:c.*2400G>A	ENSP00000502891.1:n.*2400G>A
ENST00000679249.1:c.3010G>A	ENSP00000503976.1:p.Glu1004Lys
ENST00000679285.1:n.1844G>A
ENST00000261833.11:c.4267G>A	ENSP00000261833.7:p.Glu1423Lys
ENST00000392520.2:c.3105G>A
ENST00000392521.6:c.4393G>A	ENSP00000376306.2:p.Glu1465Lys
ENST00000536008.1:n.197G>A
ENST00000537607.5:n.3120G>A
ENST00000543239.1:n.257G>A
ENST00000545913.5:n.4264G>A
ENST00000612548.4:c.1442-25498G>A	ENSP00000482318.1:n.1442-25498G>A
NM_001206999.1:c.4393G>A	NP_001193928.1:p.Glu1465Lys
NM_007174.2:c.4267G>A	NP_009105.1:p.Glu1423Lys
XM_006719206.2:c.4348G>A	XP_006719269.1:p.Glu1450Lys
XM_011537783.1:c.4393G>A	XP_011536085.1:p.Glu1465Lys
XM_011537784.1:c.4393G>A	XP_011536086.1:p.Glu1465Lys
XM_011537785.1:c.4348G>A	XP_011536087.1:p.Glu1450Lys
XM_011537786.1:c.4267G>A	XP_011536088.1:p.Glu1423Lys
XM_011537787.1:c.4222G>A	XP_011536089.1:p.Glu1408Lys
XM_011537788.1:c.4222G>A	XP_011536090.1:p.Glu1408Lys
XM_011537789.1:c.3055G>A	XP_011536091.1:p.Glu1019Lys
XM_011537790.1:c.3055G>A	XP_011536092.1:p.Glu1019Lys
XM_011537791.1:c.2995G>A	XP_011536093.1:p.Glu999Lys
XM_011537792.1:c.2824G>A	XP_011536094.1:p.Glu942Lys
XM_011537790.2:c.3055G>A	XP_011536092.1:p.Glu1019Lys
XM_011537791.2:c.2995G>A	XP_011536093.1:p.Glu999Lys
XM_011537792.2:c.2824G>A	XP_011536094.1:p.Glu942Lys
XM_017018735.1:c.4393G>A	XP_016874224.1:p.Glu1465Lys
XM_017018736.1:c.4348G>A	XP_016874225.1:p.Glu1450Lys
XM_017018737.1:c.4348G>A	XP_016874226.1:p.Glu1450Lys
XM_017018738.1:c.2869G>A	XP_016874227.1:p.Glu957Lys
XM_017018739.1:c.2824G>A	XP_016874228.1:p.Glu942Lys
NM_001206999.2:c.4393G>A MANE Select	NP_001193928.1:p.Glu1465Lys
NM_007174.3:c.4267G>A	NP_009105.1:p.Glu1423Lys