Canonical Allele Identifier: CA397968358

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228545A>G , CM000679.2:g.8228545A>G	GRCh38
NC_000017.10:g.8131863A>G , CM000679.1:g.8131863A>G	GRCh37
NC_000017.9:g.8072588A>G	NCBI36
NG_032148.1:g.24551T>C
NG_032148.2:g.24551T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3208T>C	ENSP00000462607.2:p.Ser1070Pro
ENST00000581729.2:c.3241T>C	ENSP00000462720.2:p.Ser1081Pro
ENST00000699849.1:c.2344T>C	ENSP00000514647.1:p.Ser782Pro
ENST00000699850.1:n.3404T>C
ENST00000699851.1:n.4358T>C
ENST00000699852.1:c.*1985T>C	ENSP00000514648.1:n.*1985T>C
ENST00000699853.1:c.*57T>C	ENSP00000514649.1:n.*57T>C
ENST00000699854.1:n.4031T>C
ENST00000699855.1:n.4595T>C
ENST00000699856.1:c.*423T>C	ENSP00000514650.1:n.*423T>C
ENST00000699857.1:n.4051T>C
ENST00000699858.1:c.*2756T>C	ENSP00000514651.1:n.*2756T>C
ENST00000699859.1:c.*208T>C	ENSP00000514652.1:n.*208T>C
ENST00000699860.1:n.2150T>C
ENST00000699861.1:n.3935T>C
ENST00000449476.7:c.*206T>C	ENSP00000396018.2:n.*206T>C
ENST00000581671.2:n.3461T>C
ENST00000643543.1:c.*2179T>C	ENSP00000494323.1:n.*2179T>C
ENST00000651323.1:c.3472T>C MANE Select	ENSP00000498499.1:p.Ser1158Pro
ENST00000315684.12:c.3472T>C	ENSP00000313759.8:p.Ser1158Pro
ENST00000449476.6:c.*206T>C	ENSP00000396018.2:n.*206T>C
ENST00000581729.1:c.189T>C
NM_025099.5:c.3472T>C	NP_079375.3:p.Ser1158Pro
NR_046431.1:n.3361T>C
XM_006721577.2:c.3343T>C	XP_006721640.1:p.Ser1115Pro
XM_006721578.2:c.3241T>C	XP_006721641.1:p.Ser1081Pro
XM_011524010.1:c.3367T>C	XP_011522312.1:p.Ser1123Pro
XM_011524011.1:c.2575T>C	XP_011522313.1:p.Ser859Pro
XR_429823.2:n.3349T>C
XR_429824.2:n.3450T>C
NM_025099.6:c.3472T>C MANE Select	NP_079375.3:p.Ser1158Pro
XM_006721577.3:c.3343T>C	XP_006721640.1:p.Ser1115Pro
XM_006721578.3:c.3241T>C	XP_006721641.1:p.Ser1081Pro
XM_011524010.2:c.3367T>C	XP_011522312.1:p.Ser1123Pro
XM_011524011.2:c.2575T>C	XP_011522313.1:p.Ser859Pro
XR_001752639.1:n.3323T>C
XR_001752640.1:n.3471T>C
XR_001752641.1:n.3406T>C
XR_001752642.1:n.3256T>C
XR_002958073.1:n.3762T>C
XR_429823.3:n.3349T>C
XR_429824.3:n.3450T>C
NR_046431.2:n.3322T>C