Canonical Allele Identifier: CA397968604

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228581A>G , CM000679.2:g.8228581A>G	GRCh38
NC_000017.10:g.8131899A>G , CM000679.1:g.8131899A>G	GRCh37
NC_000017.9:g.8072624A>G	NCBI36
NG_032148.1:g.24515T>C
NG_032148.2:g.24515T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3172T>C	ENSP00000462607.2:p.Cys1058Arg
ENST00000581729.2:c.3205T>C	ENSP00000462720.2:p.Cys1069Arg
ENST00000699849.1:c.2308T>C	ENSP00000514647.1:p.Cys770Arg
ENST00000699850.1:n.3368T>C
ENST00000699851.1:n.4322T>C
ENST00000699852.1:c.*1949T>C	ENSP00000514648.1:n.*1949T>C
ENST00000699853.1:c.*21T>C	ENSP00000514649.1:n.*21T>C
ENST00000699854.1:n.3995T>C
ENST00000699855.1:n.4559T>C
ENST00000699856.1:c.*387T>C	ENSP00000514650.1:n.*387T>C
ENST00000699857.1:n.4015T>C
ENST00000699858.1:c.*2720T>C	ENSP00000514651.1:n.*2720T>C
ENST00000699859.1:c.*172T>C	ENSP00000514652.1:n.*172T>C
ENST00000699860.1:n.2114T>C
ENST00000699861.1:n.3899T>C
ENST00000449476.7:c.*170T>C	ENSP00000396018.2:n.*170T>C
ENST00000581671.2:n.3425T>C
ENST00000643543.1:c.*2143T>C	ENSP00000494323.1:n.*2143T>C
ENST00000651323.1:c.3436T>C MANE Select	ENSP00000498499.1:p.Cys1146Arg
ENST00000315684.12:c.3436T>C	ENSP00000313759.8:p.Cys1146Arg
ENST00000449476.6:c.*170T>C	ENSP00000396018.2:n.*170T>C
ENST00000580299.1:c.343T>C	ENSP00000462607.1:p.Cys115Arg
ENST00000581729.1:c.153T>C
NM_025099.5:c.3436T>C	NP_079375.3:p.Cys1146Arg
NR_046431.1:n.3325T>C
XM_006721577.2:c.3307T>C	XP_006721640.1:p.Cys1103Arg
XM_006721578.2:c.3205T>C	XP_006721641.1:p.Cys1069Arg
XM_011524010.1:c.3331T>C	XP_011522312.1:p.Cys1111Arg
XM_011524011.1:c.2539T>C	XP_011522313.1:p.Cys847Arg
XR_429823.2:n.3313T>C
XR_429824.2:n.3414T>C
NM_025099.6:c.3436T>C MANE Select	NP_079375.3:p.Cys1146Arg
XM_006721577.3:c.3307T>C	XP_006721640.1:p.Cys1103Arg
XM_006721578.3:c.3205T>C	XP_006721641.1:p.Cys1069Arg
XM_011524010.2:c.3331T>C	XP_011522312.1:p.Cys1111Arg
XM_011524011.2:c.2539T>C	XP_011522313.1:p.Cys847Arg
XR_001752639.1:n.3287T>C
XR_001752640.1:n.3435T>C
XR_001752641.1:n.3370T>C
XR_001752642.1:n.3220T>C
XR_002958073.1:n.3726T>C
XR_429823.3:n.3313T>C
XR_429824.3:n.3414T>C
NR_046431.2:n.3286T>C