Canonical Allele Identifier: CA6820911

Gene: CIT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119701880C>G , CM000674.2:g.119701880C>G	GRCh38
NC_000012.11:g.120139685C>G , CM000674.1:g.120139685C>G	GRCh37
NC_000012.10:g.118624068C>G	NCBI36
NG_029792.1:g.180411G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392521.7:c.5383G>C MANE Select	ENSP00000376306.2:p.Glu1795Gln
ENST00000545913.6:n.7546G>C
ENST00000676693.1:n.2709G>C
ENST00000676833.1:n.4743G>C
ENST00000676849.1:c.4000G>C	ENSP00000503214.1:p.Glu1334Gln
ENST00000677438.1:c.*4489G>C	ENSP00000504095.1:n.*4489G>C
ENST00000677738.1:n.2580G>C
ENST00000677742.1:n.693G>C
ENST00000677812.1:c.*4603G>C	ENSP00000504400.1:n.*4603G>C
ENST00000677849.1:c.*4489G>C	ENSP00000503820.1:n.*4489G>C
ENST00000677993.1:c.3988G>C	ENSP00000503765.1:p.Glu1330Gln
ENST00000678087.1:c.3874G>C	ENSP00000503863.1:p.Glu1292Gln
ENST00000678236.1:n.6843G>C
ENST00000678494.1:c.1227-14846G>C	ENSP00000503854.1:n.1227-14846G>C
ENST00000678652.1:c.4000G>C	ENSP00000504849.1:p.Glu1334Gln
ENST00000678677.1:c.3787G>C	ENSP00000503253.1:p.Glu1263Gln
ENST00000679120.1:c.*3390G>C	ENSP00000502891.1:n.*3390G>C
ENST00000679249.1:c.4000G>C	ENSP00000503976.1:p.Glu1334Gln
ENST00000679285.1:n.2879G>C
ENST00000261833.11:c.5257G>C	ENSP00000261833.7:p.Glu1753Gln
ENST00000392520.2:c.4095G>C
ENST00000392521.6:c.5383G>C	ENSP00000376306.2:p.Glu1795Gln
ENST00000537607.5:n.4110G>C
ENST00000538073.5:n.505G>C
ENST00000545913.5:n.5254G>C
ENST00000612548.4:c.1442-13816G>C	ENSP00000482318.1:n.1442-13816G>C
NM_001206999.1:c.5383G>C	NP_001193928.1:p.Glu1795Gln
NM_007174.2:c.5257G>C	NP_009105.1:p.Glu1753Gln
XM_006719206.2:c.5338G>C	XP_006719269.1:p.Glu1780Gln
XM_011537783.1:c.5428G>C	XP_011536085.1:p.Glu1810Gln
XM_011537784.1:c.5428G>C	XP_011536086.1:p.Glu1810Gln
XM_011537785.1:c.5383G>C	XP_011536087.1:p.Glu1795Gln
XM_011537786.1:c.5302G>C	XP_011536088.1:p.Glu1768Gln
XM_011537787.1:c.5212G>C	XP_011536089.1:p.Glu1738Gln
XM_011537788.1:c.5212G>C	XP_011536090.1:p.Glu1738Gln
XM_011537789.1:c.4090G>C	XP_011536091.1:p.Glu1364Gln
XM_011537790.1:c.4090G>C	XP_011536092.1:p.Glu1364Gln
XM_011537791.1:c.4030G>C	XP_011536093.1:p.Glu1344Gln
XM_011537792.1:c.3814G>C	XP_011536094.1:p.Glu1272Gln
XM_011537790.2:c.4090G>C	XP_011536092.1:p.Glu1364Gln
XM_011537791.2:c.4030G>C	XP_011536093.1:p.Glu1344Gln
XM_011537792.2:c.3814G>C	XP_011536094.1:p.Glu1272Gln
XM_017018735.1:c.5383G>C	XP_016874224.1:p.Glu1795Gln
XM_017018736.1:c.5383G>C	XP_016874225.1:p.Glu1795Gln
XM_017018737.1:c.5338G>C	XP_016874226.1:p.Glu1780Gln
XM_017018738.1:c.3904G>C	XP_016874227.1:p.Glu1302Gln
XM_017018739.1:c.3814G>C	XP_016874228.1:p.Glu1272Gln
NM_001206999.2:c.5383G>C MANE Select	NP_001193928.1:p.Glu1795Gln
NM_007174.3:c.5257G>C	NP_009105.1:p.Glu1753Gln