Canonical Allele Identifier: CA6821487

Gene: CIT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119728602T>C , CM000674.2:g.119728602T>C	GRCh38
NC_000012.11:g.120166407T>C , CM000674.1:g.120166407T>C	GRCh37
NC_000012.10:g.118650790T>C	NCBI36
NG_029792.1:g.153689A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001206999.2:c.3491A>G MANE Select	NP_001193928.1:p.Asn1164Ser
ENST00000392521.7:c.3491A>G MANE Select	ENSP00000376306.2:p.Asn1164Ser
NM_001206999.1:c.3491A>G	NP_001193928.1:p.Asn1164Ser
NM_007174.2:c.3365A>G	NP_009105.1:p.Asn1122Ser
NM_007174.3:c.3365A>G	NP_009105.1:p.Asn1122Ser
ENST00000261833.11:c.3365A>G	ENSP00000261833.7:p.Asn1122Ser
ENST00000392520.2:c.2248A>G
ENST00000392521.6:c.3491A>G	ENSP00000376306.2:p.Asn1164Ser
ENST00000536325.1:c.268-8017A>G	ENSP00000443199.1:n.268-8017A>G
ENST00000537607.5:n.2263A>G
ENST00000545913.5:n.3407A>G
ENST00000545913.6:n.2481A>G
ENST00000612548.4:c.1442-40538A>G	ENSP00000482318.1:n.1442-40538A>G
ENST00000676693.1:n.953A>G
ENST00000676833.1:n.2653A>G
ENST00000676849.1:c.2153A>G	ENSP00000503214.1:p.Asn718Ser
ENST00000677438.1:c.*2642A>G	ENSP00000504095.1:n.*2642A>G
ENST00000677738.1:n.688A>G
ENST00000677812.1:c.*2768A>G	ENSP00000504400.1:n.*2768A>G
ENST00000677849.1:c.*2642A>G	ENSP00000503820.1:n.*2642A>G
ENST00000677927.1:n.2481A>G
ENST00000677993.1:c.2153A>G	ENSP00000503765.1:p.Asn718Ser
ENST00000678087.1:c.2027A>G	ENSP00000503863.1:p.Asn676Ser
ENST00000678494.1:c.1226+28911A>G	ENSP00000503854.1:n.1226+28911A>G
ENST00000678652.1:c.2153A>G	ENSP00000504849.1:p.Asn718Ser
ENST00000678677.1:c.2153A>G	ENSP00000503253.1:p.Asn718Ser
ENST00000679120.1:c.*1543A>G	ENSP00000502891.1:n.*1543A>G
ENST00000679249.1:c.2153A>G	ENSP00000503976.1:p.Asn718Ser
ENST00000679285.1:n.987A>G
XM_006719206.2:c.3491A>G	XP_006719269.1:p.Asn1164Ser
XM_011537783.1:c.3491A>G	XP_011536085.1:p.Asn1164Ser
XM_011537784.1:c.3491A>G	XP_011536086.1:p.Asn1164Ser
XM_011537785.1:c.3491A>G	XP_011536087.1:p.Asn1164Ser
XM_011537786.1:c.3365A>G	XP_011536088.1:p.Asn1122Ser
XM_011537787.1:c.3365A>G	XP_011536089.1:p.Asn1122Ser
XM_011537788.1:c.3365A>G	XP_011536090.1:p.Asn1122Ser
XM_011537789.1:c.2153A>G	XP_011536091.1:p.Asn718Ser
XM_011537790.1:c.2153A>G	XP_011536092.1:p.Asn718Ser
XM_011537790.2:c.2153A>G	XP_011536092.1:p.Asn718Ser
XM_011537791.1:c.2093A>G	XP_011536093.1:p.Asn698Ser
XM_011537791.2:c.2093A>G	XP_011536093.1:p.Asn698Ser
XM_011537792.1:c.1967A>G	XP_011536094.1:p.Asn656Ser
XM_011537792.2:c.1967A>G	XP_011536094.1:p.Asn656Ser
XM_017018735.1:c.3491A>G	XP_016874224.1:p.Asn1164Ser
XM_017018736.1:c.3491A>G	XP_016874225.1:p.Asn1164Ser
XM_017018737.1:c.3491A>G	XP_016874226.1:p.Asn1164Ser
XM_017018738.1:c.1967A>G	XP_016874227.1:p.Asn656Ser
XM_017018739.1:c.1967A>G	XP_016874228.1:p.Asn656Ser