Canonical Allele Identifier: CA2635985149
Gene: CTC1 HGNC NCBI

Linked Data

gnomAD v4: 17-8231567-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8231567G>T , CM000679.2:g.8231567G>T GRCh38
NC_000017.10:g.8134885G>T , CM000679.1:g.8134885G>T GRCh37
NC_000017.9:g.8075610G>T NCBI36
NG_032148.1:g.21529C>A
NG_032148.2:g.21529C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.2476-98C>A ENSP00000462607.2:n.2476-98C>A
ENST00000581729.2:c.2476-98C>A ENSP00000462720.2:n.2476-98C>A
ENST00000581967.2:n.2928-98C>A
ENST00000583254.2:n.3427C>A
ENST00000699849.1:c.1579-98C>A ENSP00000514647.1:n.1579-98C>A
ENST00000699850.1:n.1739-98C>A
ENST00000699851.1:n.2498-98C>A
ENST00000699852.1:c.*1152-98C>A ENSP00000514648.1:n.*1152-98C>A
ENST00000699853.1:c.2476-98C>A ENSP00000514649.1:n.2476-98C>A
ENST00000699854.1:n.2269-98C>A
ENST00000699855.1:n.2928-98C>A
ENST00000699856.1:c.2476-98C>A ENSP00000514650.1:n.2476-98C>A
ENST00000699857.1:n.2484-98C>A
ENST00000699858.1:c.*1089-98C>A ENSP00000514651.1:n.*1089-98C>A
ENST00000699859.1:c.2347-98C>A ENSP00000514652.1:n.2347-98C>A
ENST00000699860.1:n.581+159C>A
ENST00000699861.1:n.2498-98C>A
ENST00000699862.1:n.3436-98C>A
ENST00000449476.7:c.2371-98C>A ENSP00000396018.2:n.2371-98C>A
ENST00000581671.2:n.2465-98C>A
ENST00000643543.1:c.*1183-98C>A ENSP00000494323.1:n.*1183-98C>A
ENST00000651323.1:c.2476-98C>A MANE Select ENSP00000498499.1:n.2476-98C>A
ENST00000315684.12:c.2476-98C>A ENSP00000313759.8:n.2476-98C>A
ENST00000449476.6:c.2371-98C>A ENSP00000396018.2:n.2371-98C>A
ENST00000578240.1:n.704-98C>A
ENST00000578537.1:c.371+159C>A
NM_025099.5:c.2476-98C>A NP_079375.3:n.2476-98C>A
NR_046431.1:n.2430-98C>A
XM_006721577.2:c.2347-98C>A XP_006721640.1:n.2347-98C>A
XM_006721578.2:c.2476-98C>A XP_006721641.1:n.2476-98C>A
XM_006721579.2:c.2476-98C>A XP_006721642.1:n.2476-98C>A
XM_011524010.1:c.2371-98C>A XP_011522312.1:n.2371-98C>A
XM_011524011.1:c.1579-98C>A XP_011522313.1:n.1579-98C>A
XR_429823.2:n.2519-98C>A
XR_429824.2:n.2519-98C>A
XR_429825.1:n.2518+159C>A
NM_025099.6:c.2476-98C>A MANE Select NP_079375.3:n.2476-98C>A
XM_006721577.3:c.2347-98C>A XP_006721640.1:n.2347-98C>A
XM_006721578.3:c.2476-98C>A XP_006721641.1:n.2476-98C>A
XM_011524010.2:c.2371-98C>A XP_011522312.1:n.2371-98C>A
XM_011524011.2:c.1579-98C>A XP_011522313.1:n.1579-98C>A
XR_001752639.1:n.2390-98C>A
XR_001752640.1:n.2519-98C>A
XR_001752641.1:n.2519-98C>A
XR_001752642.1:n.2518+159C>A
XR_001752643.1:n.2949-98C>A
XR_002958073.1:n.2518+159C>A
XR_429823.3:n.2519-98C>A
XR_429824.3:n.2519-98C>A
NR_046431.2:n.2391-98C>A