Canonical Allele Identifier: CA497959141
Gene: CTC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.8135440T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8232122T>A , CM000679.2:g.8232122T>A GRCh38
NC_000017.10:g.8135440T>A , CM000679.1:g.8135440T>A GRCh37
NC_000017.9:g.8076165T>A NCBI36
NG_032148.1:g.20974A>T
NG_032148.2:g.20974A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.2166A>T ENSP00000462607.2:p.Pro722=
ENST00000581729.2:c.2166A>T ENSP00000462720.2:p.Pro722=
ENST00000581967.2:n.2618A>T
ENST00000583254.2:n.2872A>T
ENST00000699849.1:c.1269A>T ENSP00000514647.1:p.Pro423=
ENST00000699850.1:n.1429A>T
ENST00000699851.1:n.2188A>T
ENST00000699852.1:c.*842A>T ENSP00000514648.1:n.*842A>T
ENST00000699853.1:c.2166A>T ENSP00000514649.1:p.Pro722=
ENST00000699854.1:n.1959A>T
ENST00000699855.1:n.2618A>T
ENST00000699856.1:c.2166A>T ENSP00000514650.1:p.Pro722=
ENST00000699857.1:n.2174A>T
ENST00000699858.1:c.*779A>T ENSP00000514651.1:n.*779A>T
ENST00000699859.1:c.2037A>T ENSP00000514652.1:p.Pro679=
ENST00000699860.1:n.272A>T
ENST00000699861.1:n.2188A>T
ENST00000699862.1:n.3126A>T
ENST00000449476.7:c.2061A>T ENSP00000396018.2:p.Pro687=
ENST00000581671.2:n.2155A>T
ENST00000643543.1:c.*873A>T ENSP00000494323.1:n.*873A>T
ENST00000651323.1:c.2166A>T MANE Select ENSP00000498499.1:p.Pro722=
ENST00000315684.12:c.2166A>T ENSP00000313759.8:p.Pro722=
ENST00000449476.6:c.2061A>T ENSP00000396018.2:p.Pro687=
ENST00000578240.1:n.394A>T
ENST00000578537.1:c.62A>T
NM_025099.5:c.2166A>T NP_079375.3:p.Pro722=
NR_046431.1:n.2120A>T
XM_006721577.2:c.2037A>T XP_006721640.1:p.Pro679=
XM_006721578.2:c.2166A>T XP_006721641.1:p.Pro722=
XM_006721579.2:c.2166A>T XP_006721642.1:p.Pro722=
XM_011524010.1:c.2061A>T XP_011522312.1:p.Pro687=
XM_011524011.1:c.1269A>T XP_011522313.1:p.Pro423=
XR_429823.2:n.2209A>T
XR_429824.2:n.2209A>T
XR_429825.1:n.2209A>T
NM_025099.6:c.2166A>T MANE Select NP_079375.3:p.Pro722=
XM_006721577.3:c.2037A>T XP_006721640.1:p.Pro679=
XM_006721578.3:c.2166A>T XP_006721641.1:p.Pro722=
XM_011524010.2:c.2061A>T XP_011522312.1:p.Pro687=
XM_011524011.2:c.1269A>T XP_011522313.1:p.Pro423=
XR_001752639.1:n.2080A>T
XR_001752640.1:n.2209A>T
XR_001752641.1:n.2209A>T
XR_001752642.1:n.2209A>T
XR_001752643.1:n.2639A>T
XR_002958073.1:n.2209A>T
XR_429823.3:n.2209A>T
XR_429824.3:n.2209A>T
NR_046431.2:n.2081A>T