Canonical Allele Identifier: CA397968225

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228526T>G , CM000679.2:g.8228526T>G	GRCh38
NC_000017.10:g.8131844T>G , CM000679.1:g.8131844T>G	GRCh37
NC_000017.9:g.8072569T>G	NCBI36
NG_032148.1:g.24570A>C
NG_032148.2:g.24570A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3227A>C	ENSP00000462607.2:p.Lys1076Thr
ENST00000581729.2:c.3260A>C	ENSP00000462720.2:p.Lys1087Thr
ENST00000699849.1:c.2363A>C	ENSP00000514647.1:p.Lys788Thr
ENST00000699850.1:n.3423A>C
ENST00000699851.1:n.4377A>C
ENST00000699852.1:c.*2004A>C	ENSP00000514648.1:n.*2004A>C
ENST00000699853.1:c.*76A>C	ENSP00000514649.1:n.*76A>C
ENST00000699854.1:n.4050A>C
ENST00000699855.1:n.4614A>C
ENST00000699856.1:c.*442A>C	ENSP00000514650.1:n.*442A>C
ENST00000699857.1:n.4070A>C
ENST00000699858.1:c.*2775A>C	ENSP00000514651.1:n.*2775A>C
ENST00000699859.1:c.*227A>C	ENSP00000514652.1:n.*227A>C
ENST00000699860.1:n.2169A>C
ENST00000699861.1:n.3954A>C
ENST00000449476.7:c.*225A>C	ENSP00000396018.2:n.*225A>C
ENST00000581671.2:n.3480A>C
ENST00000643543.1:c.*2198A>C	ENSP00000494323.1:n.*2198A>C
ENST00000651323.1:c.3491A>C MANE Select	ENSP00000498499.1:p.Lys1164Thr
ENST00000315684.12:c.3491A>C	ENSP00000313759.8:p.Lys1164Thr
ENST00000449476.6:c.*225A>C	ENSP00000396018.2:n.*225A>C
ENST00000581729.1:c.208A>C
NM_025099.5:c.3491A>C	NP_079375.3:p.Lys1164Thr
NR_046431.1:n.3380A>C
XM_006721577.2:c.3362A>C	XP_006721640.1:p.Lys1121Thr
XM_006721578.2:c.3260A>C	XP_006721641.1:p.Lys1087Thr
XM_011524010.1:c.3386A>C	XP_011522312.1:p.Lys1129Thr
XM_011524011.1:c.2594A>C	XP_011522313.1:p.Lys865Thr
XR_429823.2:n.3368A>C
XR_429824.2:n.3469A>C
NM_025099.6:c.3491A>C MANE Select	NP_079375.3:p.Lys1164Thr
XM_006721577.3:c.3362A>C	XP_006721640.1:p.Lys1121Thr
XM_006721578.3:c.3260A>C	XP_006721641.1:p.Lys1087Thr
XM_011524010.2:c.3386A>C	XP_011522312.1:p.Lys1129Thr
XM_011524011.2:c.2594A>C	XP_011522313.1:p.Lys865Thr
XR_001752639.1:n.3342A>C
XR_001752640.1:n.3490A>C
XR_001752641.1:n.3425A>C
XR_001752642.1:n.3275A>C
XR_002958073.1:n.3781A>C
XR_429823.3:n.3368A>C
XR_429824.3:n.3469A>C
NR_046431.2:n.3341A>C