Canonical Allele Identifier: CA397968229

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228527T>C , CM000679.2:g.8228527T>C	GRCh38
NC_000017.10:g.8131845T>C , CM000679.1:g.8131845T>C	GRCh37
NC_000017.9:g.8072570T>C	NCBI36
NG_032148.1:g.24569A>G
NG_032148.2:g.24569A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3226A>G	ENSP00000462607.2:p.Lys1076Glu
ENST00000581729.2:c.3259A>G	ENSP00000462720.2:p.Lys1087Glu
ENST00000699849.1:c.2362A>G	ENSP00000514647.1:p.Lys788Glu
ENST00000699850.1:n.3422A>G
ENST00000699851.1:n.4376A>G
ENST00000699852.1:c.*2003A>G	ENSP00000514648.1:n.*2003A>G
ENST00000699853.1:c.*75A>G	ENSP00000514649.1:n.*75A>G
ENST00000699854.1:n.4049A>G
ENST00000699855.1:n.4613A>G
ENST00000699856.1:c.*441A>G	ENSP00000514650.1:n.*441A>G
ENST00000699857.1:n.4069A>G
ENST00000699858.1:c.*2774A>G	ENSP00000514651.1:n.*2774A>G
ENST00000699859.1:c.*226A>G	ENSP00000514652.1:n.*226A>G
ENST00000699860.1:n.2168A>G
ENST00000699861.1:n.3953A>G
ENST00000449476.7:c.*224A>G	ENSP00000396018.2:n.*224A>G
ENST00000581671.2:n.3479A>G
ENST00000643543.1:c.*2197A>G	ENSP00000494323.1:n.*2197A>G
ENST00000651323.1:c.3490A>G MANE Select	ENSP00000498499.1:p.Lys1164Glu
ENST00000315684.12:c.3490A>G	ENSP00000313759.8:p.Lys1164Glu
ENST00000449476.6:c.*224A>G	ENSP00000396018.2:n.*224A>G
ENST00000581729.1:c.207A>G
NM_025099.5:c.3490A>G	NP_079375.3:p.Lys1164Glu
NR_046431.1:n.3379A>G
XM_006721577.2:c.3361A>G	XP_006721640.1:p.Lys1121Glu
XM_006721578.2:c.3259A>G	XP_006721641.1:p.Lys1087Glu
XM_011524010.1:c.3385A>G	XP_011522312.1:p.Lys1129Glu
XM_011524011.1:c.2593A>G	XP_011522313.1:p.Lys865Glu
XR_429823.2:n.3367A>G
XR_429824.2:n.3468A>G
NM_025099.6:c.3490A>G MANE Select	NP_079375.3:p.Lys1164Glu
XM_006721577.3:c.3361A>G	XP_006721640.1:p.Lys1121Glu
XM_006721578.3:c.3259A>G	XP_006721641.1:p.Lys1087Glu
XM_011524010.2:c.3385A>G	XP_011522312.1:p.Lys1129Glu
XM_011524011.2:c.2593A>G	XP_011522313.1:p.Lys865Glu
XR_001752639.1:n.3341A>G
XR_001752640.1:n.3489A>G
XR_001752641.1:n.3424A>G
XR_001752642.1:n.3274A>G
XR_002958073.1:n.3780A>G
XR_429823.3:n.3367A>G
XR_429824.3:n.3468A>G
NR_046431.2:n.3340A>G