Canonical Allele Identifier: CA497958269

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228525T>C , CM000679.2:g.8228525T>C	GRCh38
NC_000017.10:g.8131843T>C , CM000679.1:g.8131843T>C	GRCh37
NC_000017.9:g.8072568T>C	NCBI36
NG_032148.1:g.24571A>G
NG_032148.2:g.24571A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3228A>G	ENSP00000462607.2:p.Lys1076=
ENST00000581729.2:c.3261A>G	ENSP00000462720.2:p.Lys1087=
ENST00000699849.1:c.2364A>G	ENSP00000514647.1:p.Lys788=
ENST00000699850.1:n.3424A>G
ENST00000699851.1:n.4378A>G
ENST00000699852.1:c.*2005A>G	ENSP00000514648.1:n.*2005A>G
ENST00000699853.1:c.*77A>G	ENSP00000514649.1:n.*77A>G
ENST00000699854.1:n.4051A>G
ENST00000699855.1:n.4615A>G
ENST00000699856.1:c.*443A>G	ENSP00000514650.1:n.*443A>G
ENST00000699857.1:n.4071A>G
ENST00000699858.1:c.*2776A>G	ENSP00000514651.1:n.*2776A>G
ENST00000699859.1:c.*228A>G	ENSP00000514652.1:n.*228A>G
ENST00000699860.1:n.2170A>G
ENST00000699861.1:n.3955A>G
ENST00000449476.7:c.*226A>G	ENSP00000396018.2:n.*226A>G
ENST00000581671.2:n.3481A>G
ENST00000643543.1:c.*2199A>G	ENSP00000494323.1:n.*2199A>G
ENST00000651323.1:c.3492A>G MANE Select	ENSP00000498499.1:p.Lys1164=
ENST00000315684.12:c.3492A>G	ENSP00000313759.8:p.Lys1164=
ENST00000449476.6:c.*226A>G	ENSP00000396018.2:n.*226A>G
ENST00000581729.1:c.209A>G
NM_025099.5:c.3492A>G	NP_079375.3:p.Lys1164=
NR_046431.1:n.3381A>G
XM_006721577.2:c.3363A>G	XP_006721640.1:p.Lys1121=
XM_006721578.2:c.3261A>G	XP_006721641.1:p.Lys1087=
XM_011524010.1:c.3387A>G	XP_011522312.1:p.Lys1129=
XM_011524011.1:c.2595A>G	XP_011522313.1:p.Lys865=
XR_429823.2:n.3369A>G
XR_429824.2:n.3470A>G
NM_025099.6:c.3492A>G MANE Select	NP_079375.3:p.Lys1164=
XM_006721577.3:c.3363A>G	XP_006721640.1:p.Lys1121=
XM_006721578.3:c.3261A>G	XP_006721641.1:p.Lys1087=
XM_011524010.2:c.3387A>G	XP_011522312.1:p.Lys1129=
XM_011524011.2:c.2595A>G	XP_011522313.1:p.Lys865=
XR_001752639.1:n.3343A>G
XR_001752640.1:n.3491A>G
XR_001752641.1:n.3426A>G
XR_001752642.1:n.3276A>G
XR_002958073.1:n.3782A>G
XR_429823.3:n.3369A>G
XR_429824.3:n.3470A>G
NR_046431.2:n.3342A>G