Canonical Allele Identifier: CA129610
Gene: CTC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30998
dbSNP Id: rs387907080
gnomAD v2: 17-8140710-C-T
gnomAD v4: 17-8237392-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8237392C>T , CM000679.2:g.8237392C>T GRCh38
NC_000017.10:g.8140710C>T , CM000679.1:g.8140710C>T GRCh37
NC_000017.9:g.8081435C>T NCBI36
NG_032148.1:g.15704G>A
NG_032148.2:g.15704G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.775G>A ENSP00000462607.2:p.Val259Met
ENST00000581729.2:c.775G>A ENSP00000462720.2:p.Val259Met
ENST00000581967.2:n.797G>A
ENST00000583254.2:n.189G>A
ENST00000699849.1:c.-123G>A ENSP00000514647.1:n.-123G>A
ENST00000699850.1:n.56-1050G>A
ENST00000699851.1:n.797G>A
ENST00000699852.1:c.775G>A ENSP00000514648.1:p.Val259Met
ENST00000699853.1:c.775G>A ENSP00000514649.1:p.Val259Met
ENST00000699854.1:n.568G>A
ENST00000699855.1:n.797G>A
ENST00000699856.1:c.775G>A ENSP00000514650.1:p.Val259Met
ENST00000699857.1:n.783G>A
ENST00000699858.1:c.775G>A ENSP00000514651.1:p.Val259Met
ENST00000699859.1:c.775G>A ENSP00000514652.1:p.Val259Met
ENST00000699861.1:n.797G>A
ENST00000699862.1:n.662G>A
ENST00000449476.7:c.670G>A ENSP00000396018.2:p.Val224Met
ENST00000581671.2:n.616G>A
ENST00000643543.1:c.775G>A ENSP00000494323.1:p.Val259Met
ENST00000651323.1:c.775G>A MANE Select ENSP00000498499.1:p.Val259Met
ENST00000315684.12:c.775G>A ENSP00000313759.8:p.Val259Met
ENST00000449476.6:c.670G>A ENSP00000396018.2:p.Val224Met
ENST00000581671.1:n.616G>A
NM_025099.5:c.775G>A NP_079375.3:p.Val259Met
NR_046431.1:n.729G>A
XM_006721577.2:c.775G>A XP_006721640.1:p.Val259Met
XM_006721578.2:c.775G>A XP_006721641.1:p.Val259Met
XM_006721579.2:c.775G>A XP_006721642.1:p.Val259Met
XM_011524010.1:c.670G>A XP_011522312.1:p.Val224Met
XM_011524011.1:c.-127G>A XP_011522313.1:n.-127G>A
XR_429823.2:n.818G>A
XR_429824.2:n.818G>A
XR_429825.1:n.818G>A
NM_025099.6:c.775G>A MANE Select NP_079375.3:p.Val259Met
XM_006721577.3:c.775G>A XP_006721640.1:p.Val259Met
XM_006721578.3:c.775G>A XP_006721641.1:p.Val259Met
XM_011524010.2:c.670G>A XP_011522312.1:p.Val224Met
XM_011524011.2:c.-127G>A XP_011522313.1:n.-127G>A
XR_001752639.1:n.818G>A
XR_001752640.1:n.818G>A
XR_001752641.1:n.818G>A
XR_001752642.1:n.818G>A
XR_001752643.1:n.818G>A
XR_001752644.1:n.818G>A
XR_002958073.1:n.818G>A
XR_429823.3:n.818G>A
XR_429824.3:n.818G>A
NR_046431.2:n.690G>A