Canonical Allele Identifier: CA8371705
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228266C>T , CM000679.2:g.8228266C>T GRCh38
NC_000017.10:g.8131584C>T , CM000679.1:g.8131584C>T GRCh37
NC_000017.9:g.8072309C>T NCBI36
NG_032148.1:g.24830G>A
NG_032148.2:g.24830G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.3304G>A ENSP00000462607.2:p.Val1102Met
ENST00000581729.2:c.3337G>A ENSP00000462720.2:p.Val1113Met
ENST00000699849.1:c.2440G>A ENSP00000514647.1:p.Val814Met
ENST00000699850.1:n.3500G>A
ENST00000699851.1:n.4454G>A
ENST00000699852.1:c.*2081G>A ENSP00000514648.1:n.*2081G>A
ENST00000699853.1:c.*153G>A ENSP00000514649.1:n.*153G>A
ENST00000699854.1:n.4127G>A
ENST00000699855.1:n.4691G>A
ENST00000699856.1:c.*519G>A ENSP00000514650.1:n.*519G>A
ENST00000699857.1:n.4147G>A
ENST00000699858.1:c.*2852G>A ENSP00000514651.1:n.*2852G>A
ENST00000699859.1:c.*304G>A ENSP00000514652.1:n.*304G>A
ENST00000699860.1:n.2246G>A
ENST00000699861.1:n.4031G>A
ENST00000449476.7:c.*302G>A ENSP00000396018.2:n.*302G>A
ENST00000581671.2:n.3557G>A
ENST00000643543.1:c.*2275G>A ENSP00000494323.1:n.*2275G>A
ENST00000651323.1:c.3568G>A MANE Select ENSP00000498499.1:p.Val1190Met
ENST00000315684.12:c.3568G>A ENSP00000313759.8:p.Val1190Met
ENST00000449476.6:c.*302G>A ENSP00000396018.2:n.*302G>A
ENST00000581729.1:c.285G>A
NM_025099.5:c.3568G>A NP_079375.3:p.Val1190Met
NR_046431.1:n.3457G>A
XM_006721577.2:c.3439G>A XP_006721640.1:p.Val1147Met
XM_006721578.2:c.3337G>A XP_006721641.1:p.Val1113Met
XM_011524010.1:c.3463G>A XP_011522312.1:p.Val1155Met
XM_011524011.1:c.2671G>A XP_011522313.1:p.Val891Met
XR_429823.2:n.3445G>A
XR_429824.2:n.3546G>A
NM_025099.6:c.3568G>A MANE Select NP_079375.3:p.Val1190Met
XM_006721577.3:c.3439G>A XP_006721640.1:p.Val1147Met
XM_006721578.3:c.3337G>A XP_006721641.1:p.Val1113Met
XM_011524010.2:c.3463G>A XP_011522312.1:p.Val1155Met
XM_011524011.2:c.2671G>A XP_011522313.1:p.Val891Met
XR_001752639.1:n.3419G>A
XR_001752640.1:n.3567G>A
XR_001752641.1:n.3502G>A
XR_001752642.1:n.3352G>A
XR_002958073.1:n.3858G>A
XR_429823.3:n.3445G>A
XR_429824.3:n.3546G>A
NR_046431.2:n.3418G>A