Canonical Allele Identifier: CA8371756
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228512C>T , CM000679.2:g.8228512C>T GRCh38
NC_000017.10:g.8131830C>T , CM000679.1:g.8131830C>T GRCh37
NC_000017.9:g.8072555C>T NCBI36
NG_032148.1:g.24584G>A
NG_032148.2:g.24584G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.3241G>A ENSP00000462607.2:p.Val1081Ile
ENST00000581729.2:c.3274G>A ENSP00000462720.2:p.Val1092Ile
ENST00000699849.1:c.2377G>A ENSP00000514647.1:p.Val793Ile
ENST00000699850.1:n.3437G>A
ENST00000699851.1:n.4391G>A
ENST00000699852.1:c.*2018G>A ENSP00000514648.1:n.*2018G>A
ENST00000699853.1:c.*90G>A ENSP00000514649.1:n.*90G>A
ENST00000699854.1:n.4064G>A
ENST00000699855.1:n.4628G>A
ENST00000699856.1:c.*456G>A ENSP00000514650.1:n.*456G>A
ENST00000699857.1:n.4084G>A
ENST00000699858.1:c.*2789G>A ENSP00000514651.1:n.*2789G>A
ENST00000699859.1:c.*241G>A ENSP00000514652.1:n.*241G>A
ENST00000699860.1:n.2183G>A
ENST00000699861.1:n.3968G>A
ENST00000449476.7:c.*239G>A ENSP00000396018.2:n.*239G>A
ENST00000581671.2:n.3494G>A
ENST00000643543.1:c.*2212G>A ENSP00000494323.1:n.*2212G>A
ENST00000651323.1:c.3505G>A MANE Select ENSP00000498499.1:p.Val1169Ile
ENST00000315684.12:c.3505G>A ENSP00000313759.8:p.Val1169Ile
ENST00000449476.6:c.*239G>A ENSP00000396018.2:n.*239G>A
ENST00000581729.1:c.222G>A
NM_025099.5:c.3505G>A NP_079375.3:p.Val1169Ile
NR_046431.1:n.3394G>A
XM_006721577.2:c.3376G>A XP_006721640.1:p.Val1126Ile
XM_006721578.2:c.3274G>A XP_006721641.1:p.Val1092Ile
XM_011524010.1:c.3400G>A XP_011522312.1:p.Val1134Ile
XM_011524011.1:c.2608G>A XP_011522313.1:p.Val870Ile
XR_429823.2:n.3382G>A
XR_429824.2:n.3483G>A
NM_025099.6:c.3505G>A MANE Select NP_079375.3:p.Val1169Ile
XM_006721577.3:c.3376G>A XP_006721640.1:p.Val1126Ile
XM_006721578.3:c.3274G>A XP_006721641.1:p.Val1092Ile
XM_011524010.2:c.3400G>A XP_011522312.1:p.Val1134Ile
XM_011524011.2:c.2608G>A XP_011522313.1:p.Val870Ile
XR_001752639.1:n.3356G>A
XR_001752640.1:n.3504G>A
XR_001752641.1:n.3439G>A
XR_001752642.1:n.3289G>A
XR_002958073.1:n.3795G>A
XR_429823.3:n.3382G>A
XR_429824.3:n.3483G>A
NR_046431.2:n.3355G>A