Canonical Allele Identifier: CA397968915

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228623C>T , CM000679.2:g.8228623C>T	GRCh38
NC_000017.10:g.8131941C>T , CM000679.1:g.8131941C>T	GRCh37
NC_000017.9:g.8072666C>T	NCBI36
NG_032148.1:g.24473G>A
NG_032148.2:g.24473G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3130G>A	ENSP00000462607.2:p.Ala1044Thr
ENST00000581729.2:c.3163G>A	ENSP00000462720.2:p.Ala1055Thr
ENST00000581967.2:n.3783G>A
ENST00000699849.1:c.2266G>A	ENSP00000514647.1:p.Ala756Thr
ENST00000699850.1:n.3326G>A
ENST00000699851.1:n.4280G>A
ENST00000699852.1:c.*1907G>A	ENSP00000514648.1:n.*1907G>A
ENST00000699853.1:c.3228G>A	ENSP00000514649.1:p.Gln1076=
ENST00000699854.1:n.3953G>A
ENST00000699855.1:n.4517G>A
ENST00000699856.1:c.*345G>A	ENSP00000514650.1:n.*345G>A
ENST00000699857.1:n.3973G>A
ENST00000699858.1:c.*2678G>A	ENSP00000514651.1:n.*2678G>A
ENST00000699859.1:c.*130G>A	ENSP00000514652.1:n.*130G>A
ENST00000699860.1:n.2072G>A
ENST00000699861.1:n.3857G>A
ENST00000449476.7:c.*128G>A	ENSP00000396018.2:n.*128G>A
ENST00000581671.2:n.3383G>A
ENST00000643543.1:c.*2101G>A	ENSP00000494323.1:n.*2101G>A
ENST00000651323.1:c.3394G>A MANE Select	ENSP00000498499.1:p.Ala1132Thr
ENST00000315684.12:c.3394G>A	ENSP00000313759.8:p.Ala1132Thr
ENST00000449476.6:c.*128G>A	ENSP00000396018.2:n.*128G>A
ENST00000580299.1:c.301G>A	ENSP00000462607.1:p.Ala101Thr
ENST00000581729.1:c.111G>A
NM_025099.5:c.3394G>A	NP_079375.3:p.Ala1132Thr
NR_046431.1:n.3283G>A
XM_006721577.2:c.3265G>A	XP_006721640.1:p.Ala1089Thr
XM_006721578.2:c.3163G>A	XP_006721641.1:p.Ala1055Thr
XM_011524010.1:c.3289G>A	XP_011522312.1:p.Ala1097Thr
XM_011524011.1:c.2497G>A	XP_011522313.1:p.Ala833Thr
XR_429823.2:n.3271G>A
XR_429824.2:n.3372G>A
NM_025099.6:c.3394G>A MANE Select	NP_079375.3:p.Ala1132Thr
XM_006721577.3:c.3265G>A	XP_006721640.1:p.Ala1089Thr
XM_006721578.3:c.3163G>A	XP_006721641.1:p.Ala1055Thr
XM_011524010.2:c.3289G>A	XP_011522312.1:p.Ala1097Thr
XM_011524011.2:c.2497G>A	XP_011522313.1:p.Ala833Thr
XR_001752639.1:n.3245G>A
XR_001752640.1:n.3393G>A
XR_001752641.1:n.3328G>A
XR_001752642.1:n.3178G>A
XR_001752643.1:n.3804G>A
XR_002958073.1:n.3684G>A
XR_429823.3:n.3271G>A
XR_429824.3:n.3372G>A
NR_046431.2:n.3244G>A