Canonical Allele Identifier: CA2635984662
Gene: CTC1 HGNC NCBI

Linked Data

gnomAD v4: 17-8231221-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8231221G>T , CM000679.2:g.8231221G>T GRCh38
NC_000017.10:g.8134539G>T , CM000679.1:g.8134539G>T GRCh37
NC_000017.9:g.8075264G>T NCBI36
NG_032148.1:g.21875C>A
NG_032148.2:g.21875C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.2669+55C>A ENSP00000462607.2:n.2669+55C>A
ENST00000581729.2:c.2669+55C>A ENSP00000462720.2:n.2669+55C>A
ENST00000581967.2:n.3121+55C>A
ENST00000583254.2:n.3773C>A
ENST00000699849.1:c.1772+55C>A ENSP00000514647.1:n.1772+55C>A
ENST00000699850.1:n.1932+55C>A
ENST00000699851.1:n.2691+55C>A
ENST00000699852.1:c.*1345+55C>A ENSP00000514648.1:n.*1345+55C>A
ENST00000699853.1:c.2669+55C>A ENSP00000514649.1:n.2669+55C>A
ENST00000699854.1:n.2462+55C>A
ENST00000699855.1:n.3121+55C>A
ENST00000699856.1:c.2669+55C>A ENSP00000514650.1:n.2669+55C>A
ENST00000699857.1:n.2677+55C>A
ENST00000699858.1:c.*1282+55C>A ENSP00000514651.1:n.*1282+55C>A
ENST00000699859.1:c.2540+55C>A ENSP00000514652.1:n.2540+55C>A
ENST00000699860.1:n.581+505C>A
ENST00000699861.1:n.2691+55C>A
ENST00000699862.1:n.3629+55C>A
ENST00000449476.7:c.2564+55C>A ENSP00000396018.2:n.2564+55C>A
ENST00000581671.2:n.2658+55C>A
ENST00000643543.1:c.*1376+55C>A ENSP00000494323.1:n.*1376+55C>A
ENST00000651323.1:c.2669+55C>A MANE Select ENSP00000498499.1:n.2669+55C>A
ENST00000315684.12:c.2669+55C>A ENSP00000313759.8:n.2669+55C>A
ENST00000449476.6:c.2564+55C>A ENSP00000396018.2:n.2564+55C>A
ENST00000578240.1:n.897+55C>A
ENST00000578441.5:n.170+55C>A
ENST00000578537.1:c.371+505C>A
NM_025099.5:c.2669+55C>A NP_079375.3:n.2669+55C>A
NR_046431.1:n.2623+55C>A
XM_006721577.2:c.2540+55C>A XP_006721640.1:n.2540+55C>A
XM_006721578.2:c.2669+55C>A XP_006721641.1:n.2669+55C>A
XM_006721579.2:c.2669+55C>A XP_006721642.1:n.2669+55C>A
XM_011524010.1:c.2564+55C>A XP_011522312.1:n.2564+55C>A
XM_011524011.1:c.1772+55C>A XP_011522313.1:n.1772+55C>A
XR_429823.2:n.2712+55C>A
XR_429824.2:n.2712+55C>A
XR_429825.1:n.2518+505C>A
NM_025099.6:c.2669+55C>A MANE Select NP_079375.3:n.2669+55C>A
XM_006721577.3:c.2540+55C>A XP_006721640.1:n.2540+55C>A
XM_006721578.3:c.2669+55C>A XP_006721641.1:n.2669+55C>A
XM_011524010.2:c.2564+55C>A XP_011522312.1:n.2564+55C>A
XM_011524011.2:c.1772+55C>A XP_011522313.1:n.1772+55C>A
XR_001752639.1:n.2583+55C>A
XR_001752640.1:n.2712+55C>A
XR_001752641.1:n.2712+55C>A
XR_001752642.1:n.2518+505C>A
XR_001752643.1:n.3142+55C>A
XR_002958073.1:n.2518+505C>A
XR_429823.3:n.2712+55C>A
XR_429824.3:n.2712+55C>A
NR_046431.2:n.2584+55C>A