Canonical Allele Identifier: CA397967701

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228250C>T , CM000679.2:g.8228250C>T	GRCh38
NC_000017.10:g.8131568C>T , CM000679.1:g.8131568C>T	GRCh37
NC_000017.9:g.8072293C>T	NCBI36
NG_032148.1:g.24846G>A
NG_032148.2:g.24846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3320G>A	ENSP00000462607.2:p.Arg1107Gln
ENST00000581729.2:c.3353G>A	ENSP00000462720.2:p.Arg1118Gln
ENST00000699849.1:c.2456G>A	ENSP00000514647.1:p.Arg819Gln
ENST00000699850.1:n.3516G>A
ENST00000699851.1:n.4470G>A
ENST00000699852.1:c.*2097G>A	ENSP00000514648.1:n.*2097G>A
ENST00000699853.1:c.*169G>A	ENSP00000514649.1:n.*169G>A
ENST00000699854.1:n.4143G>A
ENST00000699855.1:n.4707G>A
ENST00000699856.1:c.*535G>A	ENSP00000514650.1:n.*535G>A
ENST00000699857.1:n.4163G>A
ENST00000699858.1:c.*2868G>A	ENSP00000514651.1:n.*2868G>A
ENST00000699859.1:c.*320G>A	ENSP00000514652.1:n.*320G>A
ENST00000699860.1:n.2262G>A
ENST00000699861.1:n.4047G>A
ENST00000449476.7:c.*318G>A	ENSP00000396018.2:n.*318G>A
ENST00000581671.2:n.3573G>A
ENST00000643543.1:c.*2291G>A	ENSP00000494323.1:n.*2291G>A
ENST00000651323.1:c.3584G>A MANE Select	ENSP00000498499.1:p.Arg1195Gln
ENST00000315684.12:c.3584G>A	ENSP00000313759.8:p.Arg1195Gln
ENST00000449476.6:c.*318G>A	ENSP00000396018.2:n.*318G>A
ENST00000581729.1:c.301G>A
NM_025099.5:c.3584G>A	NP_079375.3:p.Arg1195Gln
NR_046431.1:n.3473G>A
XM_006721577.2:c.3455G>A	XP_006721640.1:p.Arg1152Gln
XM_006721578.2:c.3353G>A	XP_006721641.1:p.Arg1118Gln
XM_011524010.1:c.3479G>A	XP_011522312.1:p.Arg1160Gln
XM_011524011.1:c.2687G>A	XP_011522313.1:p.Arg896Gln
XR_429823.2:n.3461G>A
XR_429824.2:n.3562G>A
NM_025099.6:c.3584G>A MANE Select	NP_079375.3:p.Arg1195Gln
XM_006721577.3:c.3455G>A	XP_006721640.1:p.Arg1152Gln
XM_006721578.3:c.3353G>A	XP_006721641.1:p.Arg1118Gln
XM_011524010.2:c.3479G>A	XP_011522312.1:p.Arg1160Gln
XM_011524011.2:c.2687G>A	XP_011522313.1:p.Arg896Gln
XR_001752639.1:n.3435G>A
XR_001752640.1:n.3583G>A
XR_001752641.1:n.3518G>A
XR_001752642.1:n.3368G>A
XR_002958073.1:n.3874G>A
XR_429823.3:n.3461G>A
XR_429824.3:n.3562G>A
NR_046431.2:n.3434G>A