Canonical Allele Identifier: CA6820980

Gene: CIT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119708223T>C , CM000674.2:g.119708223T>C	GRCh38
NC_000012.11:g.120146028T>C , CM000674.1:g.120146028T>C	GRCh37
NC_000012.10:g.118630411T>C	NCBI36
NG_029792.1:g.174068A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392521.7:c.5167A>G MANE Select	ENSP00000376306.2:p.Ile1723Val
ENST00000545913.6:n.7330A>G
ENST00000676693.1:n.2493A>G
ENST00000676833.1:n.4527A>G
ENST00000676849.1:c.3784A>G	ENSP00000503214.1:p.Ile1262Val
ENST00000677438.1:c.*4273A>G	ENSP00000504095.1:n.*4273A>G
ENST00000677738.1:n.2364A>G
ENST00000677742.1:n.477A>G
ENST00000677812.1:c.*4387A>G	ENSP00000504400.1:n.*4387A>G
ENST00000677849.1:c.*4273A>G	ENSP00000503820.1:n.*4273A>G
ENST00000677993.1:c.3772A>G	ENSP00000503765.1:p.Ile1258Val
ENST00000678087.1:c.3658A>G	ENSP00000503863.1:p.Ile1220Val
ENST00000678236.1:n.6627A>G
ENST00000678494.1:c.1227-21189A>G	ENSP00000503854.1:n.1227-21189A>G
ENST00000678652.1:c.3784A>G	ENSP00000504849.1:p.Ile1262Val
ENST00000678677.1:c.3571A>G	ENSP00000503253.1:p.Ile1191Val
ENST00000679120.1:c.*3174A>G	ENSP00000502891.1:n.*3174A>G
ENST00000679249.1:c.3784A>G	ENSP00000503976.1:p.Ile1262Val
ENST00000679285.1:n.2663A>G
ENST00000261833.11:c.5041A>G	ENSP00000261833.7:p.Ile1681Val
ENST00000392520.2:c.3879A>G
ENST00000392521.6:c.5167A>G	ENSP00000376306.2:p.Ile1723Val
ENST00000537607.5:n.3894A>G
ENST00000538073.5:n.289A>G
ENST00000543324.1:n.359A>G
ENST00000545913.5:n.5038A>G
ENST00000612548.4:c.1442-20159A>G	ENSP00000482318.1:n.1442-20159A>G
NM_001206999.1:c.5167A>G	NP_001193928.1:p.Ile1723Val
NM_007174.2:c.5041A>G	NP_009105.1:p.Ile1681Val
XM_006719206.2:c.5122A>G	XP_006719269.1:p.Ile1708Val
XM_011537783.1:c.5212A>G	XP_011536085.1:p.Ile1738Val
XM_011537784.1:c.5212A>G	XP_011536086.1:p.Ile1738Val
XM_011537785.1:c.5167A>G	XP_011536087.1:p.Ile1723Val
XM_011537786.1:c.5086A>G	XP_011536088.1:p.Ile1696Val
XM_011537787.1:c.4996A>G	XP_011536089.1:p.Ile1666Val
XM_011537788.1:c.4996A>G	XP_011536090.1:p.Ile1666Val
XM_011537789.1:c.3874A>G	XP_011536091.1:p.Ile1292Val
XM_011537790.1:c.3874A>G	XP_011536092.1:p.Ile1292Val
XM_011537791.1:c.3814A>G	XP_011536093.1:p.Ile1272Val
XM_011537792.1:c.3598A>G	XP_011536094.1:p.Ile1200Val
XM_011537790.2:c.3874A>G	XP_011536092.1:p.Ile1292Val
XM_011537791.2:c.3814A>G	XP_011536093.1:p.Ile1272Val
XM_011537792.2:c.3598A>G	XP_011536094.1:p.Ile1200Val
XM_017018735.1:c.5167A>G	XP_016874224.1:p.Ile1723Val
XM_017018736.1:c.5167A>G	XP_016874225.1:p.Ile1723Val
XM_017018737.1:c.5122A>G	XP_016874226.1:p.Ile1708Val
XM_017018738.1:c.3688A>G	XP_016874227.1:p.Ile1230Val
XM_017018739.1:c.3598A>G	XP_016874228.1:p.Ile1200Val
NM_001206999.2:c.5167A>G MANE Select	NP_001193928.1:p.Ile1723Val
NM_007174.3:c.5041A>G	NP_009105.1:p.Ile1681Val