Canonical Allele Identifier: CA386546927

Gene: CIT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119782628G>A , CM000674.2:g.119782628G>A	GRCh38
NC_000012.11:g.120220432G>A , CM000674.1:g.120220432G>A	GRCh37
NC_000012.10:g.118704815G>A	NCBI36
NG_029792.1:g.99664C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206999.2:c.1555C>T MANE Select	NP_001193928.1:p.Arg519Ter
ENST00000392521.7:c.1555C>T MANE Select	ENSP00000376306.2:p.Arg519Ter
NM_001206999.1:c.1555C>T	NP_001193928.1:p.Arg519Ter
NM_007174.2:c.1555C>T	NP_009105.1:p.Arg519Ter
NM_007174.3:c.1555C>T	NP_009105.1:p.Arg519Ter
ENST00000261833.11:c.1555C>T	ENSP00000261833.7:p.Arg519Ter
ENST00000392520.2:c.438C>T
ENST00000392521.6:c.1555C>T	ENSP00000376306.2:p.Arg519Ter
ENST00000488203.1:n.1811C>T
ENST00000536325.1:c.268-62043C>T	ENSP00000443199.1:n.268-62043C>T
ENST00000537607.5:n.327C>T
ENST00000545913.5:n.1597C>T
ENST00000545913.6:n.545C>T
ENST00000612548.4:c.1441+1384C>T	ENSP00000482318.1:n.1441+1384C>T
ENST00000676563.1:c.*832C>T	ENSP00000503745.1:n.*832C>T
ENST00000676833.1:n.717C>T
ENST00000676849.1:c.217C>T	ENSP00000503214.1:p.Arg73Ter
ENST00000677438.1:c.*832C>T	ENSP00000504095.1:n.*832C>T
ENST00000677812.1:c.*832C>T	ENSP00000504400.1:n.*832C>T
ENST00000677849.1:c.*832C>T	ENSP00000503820.1:n.*832C>T
ENST00000677927.1:n.545C>T
ENST00000677993.1:c.217C>T	ENSP00000503765.1:p.Arg73Ter
ENST00000678087.1:c.217C>T	ENSP00000503863.1:p.Arg73Ter
ENST00000678494.1:c.217C>T	ENSP00000503854.1:p.Arg73Ter
ENST00000678652.1:c.217C>T	ENSP00000504849.1:p.Arg73Ter
ENST00000678677.1:c.217C>T	ENSP00000503253.1:p.Arg73Ter
ENST00000678686.1:c.*832C>T	ENSP00000503624.1:n.*832C>T
ENST00000679120.1:c.217C>T	ENSP00000502891.1:p.Arg73Ter
ENST00000679249.1:c.217C>T	ENSP00000503976.1:p.Arg73Ter
XM_006719206.2:c.1555C>T	XP_006719269.1:p.Arg519Ter
XM_011537783.1:c.1555C>T	XP_011536085.1:p.Arg519Ter
XM_011537784.1:c.1555C>T	XP_011536086.1:p.Arg519Ter
XM_011537785.1:c.1555C>T	XP_011536087.1:p.Arg519Ter
XM_011537786.1:c.1555C>T	XP_011536088.1:p.Arg519Ter
XM_011537787.1:c.1555C>T	XP_011536089.1:p.Arg519Ter
XM_011537788.1:c.1555C>T	XP_011536090.1:p.Arg519Ter
XM_011537789.1:c.217C>T	XP_011536091.1:p.Arg73Ter
XM_011537790.1:c.217C>T	XP_011536092.1:p.Arg73Ter
XM_011537790.2:c.217C>T	XP_011536092.1:p.Arg73Ter
XM_011537791.1:c.157C>T	XP_011536093.1:p.Arg53Ter
XM_011537791.2:c.157C>T	XP_011536093.1:p.Arg53Ter
XM_011537792.1:c.157C>T	XP_011536094.1:p.Arg53Ter
XM_011537792.2:c.157C>T	XP_011536094.1:p.Arg53Ter
XM_017018735.1:c.1555C>T	XP_016874224.1:p.Arg519Ter
XM_017018736.1:c.1555C>T	XP_016874225.1:p.Arg519Ter
XM_017018737.1:c.1555C>T	XP_016874226.1:p.Arg519Ter
XM_017018738.1:c.157C>T	XP_016874227.1:p.Arg53Ter
XM_017018739.1:c.157C>T	XP_016874228.1:p.Arg53Ter