Canonical Allele Identifier: CA497958157

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228243G>A , CM000679.2:g.8228243G>A	GRCh38
NC_000017.10:g.8131561G>A , CM000679.1:g.8131561G>A	GRCh37
NC_000017.9:g.8072286G>A	NCBI36
NG_032148.1:g.24853C>T
NG_032148.2:g.24853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3327C>T	ENSP00000462607.2:p.Ser1109=
ENST00000581729.2:c.3360C>T	ENSP00000462720.2:p.Ser1120=
ENST00000699849.1:c.2463C>T	ENSP00000514647.1:p.Ser821=
ENST00000699850.1:n.3523C>T
ENST00000699851.1:n.4477C>T
ENST00000699852.1:c.*2104C>T	ENSP00000514648.1:n.*2104C>T
ENST00000699853.1:c.*176C>T	ENSP00000514649.1:n.*176C>T
ENST00000699854.1:n.4150C>T
ENST00000699855.1:n.4714C>T
ENST00000699856.1:c.*542C>T	ENSP00000514650.1:n.*542C>T
ENST00000699857.1:n.4170C>T
ENST00000699858.1:c.*2875C>T	ENSP00000514651.1:n.*2875C>T
ENST00000699859.1:c.*327C>T	ENSP00000514652.1:n.*327C>T
ENST00000699860.1:n.2269C>T
ENST00000699861.1:n.4054C>T
ENST00000449476.7:c.*325C>T	ENSP00000396018.2:n.*325C>T
ENST00000581671.2:n.3580C>T
ENST00000643543.1:c.*2298C>T	ENSP00000494323.1:n.*2298C>T
ENST00000651323.1:c.3591C>T MANE Select	ENSP00000498499.1:p.Ser1197=
ENST00000315684.12:c.3591C>T	ENSP00000313759.8:p.Ser1197=
ENST00000449476.6:c.*325C>T	ENSP00000396018.2:n.*325C>T
ENST00000581729.1:c.308C>T
NM_025099.5:c.3591C>T	NP_079375.3:p.Ser1197=
NR_046431.1:n.3480C>T
XM_006721577.2:c.3462C>T	XP_006721640.1:p.Ser1154=
XM_006721578.2:c.3360C>T	XP_006721641.1:p.Ser1120=
XM_011524010.1:c.3486C>T	XP_011522312.1:p.Ser1162=
XM_011524011.1:c.2694C>T	XP_011522313.1:p.Ser898=
XR_429823.2:n.3468C>T
XR_429824.2:n.3569C>T
NM_025099.6:c.3591C>T MANE Select	NP_079375.3:p.Ser1197=
XM_006721577.3:c.3462C>T	XP_006721640.1:p.Ser1154=
XM_006721578.3:c.3360C>T	XP_006721641.1:p.Ser1120=
XM_011524010.2:c.3486C>T	XP_011522312.1:p.Ser1162=
XM_011524011.2:c.2694C>T	XP_011522313.1:p.Ser898=
XR_001752639.1:n.3442C>T
XR_001752640.1:n.3590C>T
XR_001752641.1:n.3525C>T
XR_001752642.1:n.3375C>T
XR_002958073.1:n.3881C>T
XR_429823.3:n.3468C>T
XR_429824.3:n.3569C>T
NR_046431.2:n.3441C>T