Canonical Allele Identifier: CA397972329

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8229409G>A , CM000679.2:g.8229409G>A	GRCh38
NC_000017.10:g.8132727G>A , CM000679.1:g.8132727G>A	GRCh37
NC_000017.9:g.8073452G>A	NCBI36
NG_032148.1:g.23687C>T
NG_032148.2:g.23687C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025099.6:c.3049C>T MANE Select	NP_079375.3:p.Gln1017Ter
ENST00000651323.1:c.3049C>T MANE Select	ENSP00000498499.1:p.Gln1017Ter
NM_025099.5:c.3049C>T	NP_079375.3:p.Gln1017Ter
NR_046431.1:n.3003C>T
NR_046431.2:n.2964C>T
ENST00000315684.12:c.3049C>T	ENSP00000313759.8:p.Gln1017Ter
ENST00000449476.6:c.2944C>T	ENSP00000396018.2:p.Gln982Ter
ENST00000449476.7:c.2944C>T	ENSP00000396018.2:p.Gln982Ter
ENST00000578240.1:n.1602C>T
ENST00000578441.5:n.406C>T
ENST00000578537.1:c.705C>T
ENST00000580299.1:c.220C>T	ENSP00000462607.1:p.Gln74Ter
ENST00000580299.2:c.3049C>T	ENSP00000462607.2:p.Gln1017Ter
ENST00000581671.2:n.3038C>T
ENST00000581729.2:c.3049C>T	ENSP00000462720.2:p.Gln1017Ter
ENST00000581967.2:n.3501C>T
ENST00000643543.1:c.*1756C>T	ENSP00000494323.1:n.*1756C>T
ENST00000699849.1:c.2152C>T	ENSP00000514647.1:p.Gln718Ter
ENST00000699850.1:n.2637C>T
ENST00000699851.1:n.3840C>T
ENST00000699852.1:c.*1627C>T	ENSP00000514648.1:n.*1627C>T
ENST00000699853.1:c.3049C>T	ENSP00000514649.1:p.Gln1017Ter
ENST00000699854.1:n.3167C>T
ENST00000699855.1:n.3826C>T
ENST00000699856.1:c.*63C>T	ENSP00000514650.1:n.*63C>T
ENST00000699857.1:n.3284C>T
ENST00000699858.1:c.*1987C>T	ENSP00000514651.1:n.*1987C>T
ENST00000699859.1:c.2920C>T	ENSP00000514652.1:p.Gln974Ter
ENST00000699860.1:n.1286C>T
ENST00000699861.1:n.3071C>T
XM_006721577.2:c.2920C>T	XP_006721640.1:p.Gln974Ter
XM_006721577.3:c.2920C>T	XP_006721640.1:p.Gln974Ter
XM_006721578.2:c.3049C>T	XP_006721641.1:p.Gln1017Ter
XM_006721578.3:c.3049C>T	XP_006721641.1:p.Gln1017Ter
XM_006721579.2:c.*63C>T	XP_006721642.1:n.*63C>T
XM_011524010.1:c.2944C>T	XP_011522312.1:p.Gln982Ter
XM_011524010.2:c.2944C>T	XP_011522312.1:p.Gln982Ter
XM_011524011.1:c.2152C>T	XP_011522313.1:p.Gln718Ter
XM_011524011.2:c.2152C>T	XP_011522313.1:p.Gln718Ter
XR_001752639.1:n.2963C>T
XR_001752640.1:n.3046C>T
XR_001752641.1:n.3046C>T
XR_001752642.1:n.2898C>T
XR_001752643.1:n.3522C>T
XR_002958073.1:n.2898C>T
XR_429823.2:n.3092C>T
XR_429823.3:n.3092C>T
XR_429824.2:n.3092C>T
XR_429824.3:n.3092C>T
XR_429825.1:n.2898C>T