Canonical Allele Identifier: CA8371721
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228310C>T , CM000679.2:g.8228310C>T GRCh38
NC_000017.10:g.8131628C>T , CM000679.1:g.8131628C>T GRCh37
NC_000017.9:g.8072353C>T NCBI36
NG_032148.1:g.24786G>A
NG_032148.2:g.24786G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.3260G>A ENSP00000462607.2:p.Arg1087Gln
ENST00000581729.2:c.3293G>A ENSP00000462720.2:p.Arg1098Gln
ENST00000699849.1:c.2396G>A ENSP00000514647.1:p.Arg799Gln
ENST00000699850.1:n.3456G>A
ENST00000699851.1:n.4410G>A
ENST00000699852.1:c.*2037G>A ENSP00000514648.1:n.*2037G>A
ENST00000699853.1:c.*109G>A ENSP00000514649.1:n.*109G>A
ENST00000699854.1:n.4083G>A
ENST00000699855.1:n.4647G>A
ENST00000699856.1:c.*475G>A ENSP00000514650.1:n.*475G>A
ENST00000699857.1:n.4103G>A
ENST00000699858.1:c.*2808G>A ENSP00000514651.1:n.*2808G>A
ENST00000699859.1:c.*260G>A ENSP00000514652.1:n.*260G>A
ENST00000699860.1:n.2202G>A
ENST00000699861.1:n.3987G>A
ENST00000449476.7:c.*258G>A ENSP00000396018.2:n.*258G>A
ENST00000581671.2:n.3513G>A
ENST00000643543.1:c.*2231G>A ENSP00000494323.1:n.*2231G>A
ENST00000651323.1:c.3524G>A MANE Select ENSP00000498499.1:p.Arg1175Gln
ENST00000315684.12:c.3524G>A ENSP00000313759.8:p.Arg1175Gln
ENST00000449476.6:c.*258G>A ENSP00000396018.2:n.*258G>A
ENST00000581729.1:c.241G>A
NM_025099.5:c.3524G>A NP_079375.3:p.Arg1175Gln
NR_046431.1:n.3413G>A
XM_006721577.2:c.3395G>A XP_006721640.1:p.Arg1132Gln
XM_006721578.2:c.3293G>A XP_006721641.1:p.Arg1098Gln
XM_011524010.1:c.3419G>A XP_011522312.1:p.Arg1140Gln
XM_011524011.1:c.2627G>A XP_011522313.1:p.Arg876Gln
XR_429823.2:n.3401G>A
XR_429824.2:n.3502G>A
NM_025099.6:c.3524G>A MANE Select NP_079375.3:p.Arg1175Gln
XM_006721577.3:c.3395G>A XP_006721640.1:p.Arg1132Gln
XM_006721578.3:c.3293G>A XP_006721641.1:p.Arg1098Gln
XM_011524010.2:c.3419G>A XP_011522312.1:p.Arg1140Gln
XM_011524011.2:c.2627G>A XP_011522313.1:p.Arg876Gln
XR_001752639.1:n.3375G>A
XR_001752640.1:n.3523G>A
XR_001752641.1:n.3458G>A
XR_001752642.1:n.3308G>A
XR_002958073.1:n.3814G>A
XR_429823.3:n.3401G>A
XR_429824.3:n.3502G>A
NR_046431.2:n.3374G>A