Canonical Allele Identifier: CA497958315

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228585T>G , CM000679.2:g.8228585T>G	GRCh38
NC_000017.10:g.8131903T>G , CM000679.1:g.8131903T>G	GRCh37
NC_000017.9:g.8072628T>G	NCBI36
NG_032148.1:g.24511A>C
NG_032148.2:g.24511A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3168A>C	ENSP00000462607.2:p.Thr1056=
ENST00000581729.2:c.3201A>C	ENSP00000462720.2:p.Thr1067=
ENST00000699849.1:c.2304A>C	ENSP00000514647.1:p.Thr768=
ENST00000699850.1:n.3364A>C
ENST00000699851.1:n.4318A>C
ENST00000699852.1:c.*1945A>C	ENSP00000514648.1:n.*1945A>C
ENST00000699853.1:c.*17A>C	ENSP00000514649.1:n.*17A>C
ENST00000699854.1:n.3991A>C
ENST00000699855.1:n.4555A>C
ENST00000699856.1:c.*383A>C	ENSP00000514650.1:n.*383A>C
ENST00000699857.1:n.4011A>C
ENST00000699858.1:c.*2716A>C	ENSP00000514651.1:n.*2716A>C
ENST00000699859.1:c.*168A>C	ENSP00000514652.1:n.*168A>C
ENST00000699860.1:n.2110A>C
ENST00000699861.1:n.3895A>C
ENST00000449476.7:c.*166A>C	ENSP00000396018.2:n.*166A>C
ENST00000581671.2:n.3421A>C
ENST00000643543.1:c.*2139A>C	ENSP00000494323.1:n.*2139A>C
ENST00000651323.1:c.3432A>C MANE Select	ENSP00000498499.1:p.Thr1144=
ENST00000315684.12:c.3432A>C	ENSP00000313759.8:p.Thr1144=
ENST00000449476.6:c.*166A>C	ENSP00000396018.2:n.*166A>C
ENST00000580299.1:c.339A>C	ENSP00000462607.1:p.Thr113=
ENST00000581729.1:c.149A>C
NM_025099.5:c.3432A>C	NP_079375.3:p.Thr1144=
NR_046431.1:n.3321A>C
XM_006721577.2:c.3303A>C	XP_006721640.1:p.Thr1101=
XM_006721578.2:c.3201A>C	XP_006721641.1:p.Thr1067=
XM_011524010.1:c.3327A>C	XP_011522312.1:p.Thr1109=
XM_011524011.1:c.2535A>C	XP_011522313.1:p.Thr845=
XR_429823.2:n.3309A>C
XR_429824.2:n.3410A>C
NM_025099.6:c.3432A>C MANE Select	NP_079375.3:p.Thr1144=
XM_006721577.3:c.3303A>C	XP_006721640.1:p.Thr1101=
XM_006721578.3:c.3201A>C	XP_006721641.1:p.Thr1067=
XM_011524010.2:c.3327A>C	XP_011522312.1:p.Thr1109=
XM_011524011.2:c.2535A>C	XP_011522313.1:p.Thr845=
XR_001752639.1:n.3283A>C
XR_001752640.1:n.3431A>C
XR_001752641.1:n.3366A>C
XR_001752642.1:n.3216A>C
XR_002958073.1:n.3722A>C
XR_429823.3:n.3309A>C
XR_429824.3:n.3410A>C
NR_046431.2:n.3282A>C