Canonical Allele Identifier: CA8371778
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228611C>T , CM000679.2:g.8228611C>T GRCh38
NC_000017.10:g.8131929C>T , CM000679.1:g.8131929C>T GRCh37
NC_000017.9:g.8072654C>T NCBI36
NG_032148.1:g.24485G>A
NG_032148.2:g.24485G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.3142G>A ENSP00000462607.2:p.Glu1048Lys
ENST00000581729.2:c.3175G>A ENSP00000462720.2:p.Glu1059Lys
ENST00000581967.2:n.3795G>A
ENST00000699849.1:c.2278G>A ENSP00000514647.1:p.Glu760Lys
ENST00000699850.1:n.3338G>A
ENST00000699851.1:n.4292G>A
ENST00000699852.1:c.*1919G>A ENSP00000514648.1:n.*1919G>A
ENST00000699853.1:c.3240G>A ENSP00000514649.1:p.Thr1080=
ENST00000699854.1:n.3965G>A
ENST00000699855.1:n.4529G>A
ENST00000699856.1:c.*357G>A ENSP00000514650.1:n.*357G>A
ENST00000699857.1:n.3985G>A
ENST00000699858.1:c.*2690G>A ENSP00000514651.1:n.*2690G>A
ENST00000699859.1:c.*142G>A ENSP00000514652.1:n.*142G>A
ENST00000699860.1:n.2084G>A
ENST00000699861.1:n.3869G>A
ENST00000449476.7:c.*140G>A ENSP00000396018.2:n.*140G>A
ENST00000581671.2:n.3395G>A
ENST00000643543.1:c.*2113G>A ENSP00000494323.1:n.*2113G>A
ENST00000651323.1:c.3406G>A MANE Select ENSP00000498499.1:p.Glu1136Lys
ENST00000315684.12:c.3406G>A ENSP00000313759.8:p.Glu1136Lys
ENST00000449476.6:c.*140G>A ENSP00000396018.2:n.*140G>A
ENST00000580299.1:c.313G>A ENSP00000462607.1:p.Glu105Lys
ENST00000581729.1:c.123G>A
NM_025099.5:c.3406G>A NP_079375.3:p.Glu1136Lys
NR_046431.1:n.3295G>A
XM_006721577.2:c.3277G>A XP_006721640.1:p.Glu1093Lys
XM_006721578.2:c.3175G>A XP_006721641.1:p.Glu1059Lys
XM_011524010.1:c.3301G>A XP_011522312.1:p.Glu1101Lys
XM_011524011.1:c.2509G>A XP_011522313.1:p.Glu837Lys
XR_429823.2:n.3283G>A
XR_429824.2:n.3384G>A
NM_025099.6:c.3406G>A MANE Select NP_079375.3:p.Glu1136Lys
XM_006721577.3:c.3277G>A XP_006721640.1:p.Glu1093Lys
XM_006721578.3:c.3175G>A XP_006721641.1:p.Glu1059Lys
XM_011524010.2:c.3301G>A XP_011522312.1:p.Glu1101Lys
XM_011524011.2:c.2509G>A XP_011522313.1:p.Glu837Lys
XR_001752639.1:n.3257G>A
XR_001752640.1:n.3405G>A
XR_001752641.1:n.3340G>A
XR_001752642.1:n.3190G>A
XR_001752643.1:n.3816G>A
XR_002958073.1:n.3696G>A
XR_429823.3:n.3283G>A
XR_429824.3:n.3384G>A
NR_046431.2:n.3256G>A