Canonical Allele Identifier: CA397969407

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228873T>G , CM000679.2:g.8228873T>G	GRCh38
NC_000017.10:g.8132191T>G , CM000679.1:g.8132191T>G	GRCh37
NC_000017.9:g.8072916T>G	NCBI36
NG_032148.1:g.24223A>C
NG_032148.2:g.24223A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3124-244A>C	ENSP00000462607.2:n.3124-244A>C
ENST00000581729.2:c.3157-244A>C	ENSP00000462720.2:n.3157-244A>C
ENST00000581967.2:n.3628A>C
ENST00000699849.1:c.2260-244A>C	ENSP00000514647.1:n.2260-244A>C
ENST00000699850.1:n.3173A>C
ENST00000699851.1:n.4127A>C
ENST00000699852.1:c.*1754A>C	ENSP00000514648.1:n.*1754A>C
ENST00000699853.1:c.3222-244A>C	ENSP00000514649.1:n.3222-244A>C
ENST00000699854.1:n.3703A>C
ENST00000699855.1:n.4267A>C
ENST00000699856.1:c.*190A>C	ENSP00000514650.1:n.*190A>C
ENST00000699857.1:n.3820A>C
ENST00000699858.1:c.*2523A>C	ENSP00000514651.1:n.*2523A>C
ENST00000699859.1:c.3047A>C	ENSP00000514652.1:p.Asp1016Ala
ENST00000699860.1:n.1822A>C
ENST00000699861.1:n.3607A>C
ENST00000449476.7:c.3071A>C	ENSP00000396018.2:p.Asp1024Ala
ENST00000581671.2:n.3230A>C
ENST00000643543.1:c.*1948A>C	ENSP00000494323.1:n.*1948A>C
ENST00000651323.1:c.3241A>C MANE Select	ENSP00000498499.1:p.Thr1081Pro
ENST00000315684.12:c.3241A>C	ENSP00000313759.8:p.Thr1081Pro
ENST00000449476.6:c.3071A>C	ENSP00000396018.2:p.Asp1024Ala
ENST00000578441.5:n.693A>C
ENST00000578537.1:c.897A>C
ENST00000580299.1:c.295-244A>C	ENSP00000462607.1:n.295-244A>C
ENST00000581729.1:c.105-244A>C
NM_025099.5:c.3241A>C	NP_079375.3:p.Thr1081Pro
NR_046431.1:n.3130A>C
XM_006721577.2:c.3112A>C	XP_006721640.1:p.Thr1038Pro
XM_006721578.2:c.3157-244A>C	XP_006721641.1:n.3157-244A>C
XM_011524010.1:c.3136A>C	XP_011522312.1:p.Thr1046Pro
XM_011524011.1:c.2344A>C	XP_011522313.1:p.Thr782Pro
XR_429823.2:n.3265-244A>C
XR_429824.2:n.3219A>C
XR_429825.1:n.3090A>C
NM_025099.6:c.3241A>C MANE Select	NP_079375.3:p.Thr1081Pro
XM_006721577.3:c.3112A>C	XP_006721640.1:p.Thr1038Pro
XM_006721578.3:c.3157-244A>C	XP_006721641.1:n.3157-244A>C
XM_011524010.2:c.3136A>C	XP_011522312.1:p.Thr1046Pro
XM_011524011.2:c.2344A>C	XP_011522313.1:p.Thr782Pro
XR_001752639.1:n.3090A>C
XR_001752640.1:n.3238A>C
XR_001752641.1:n.3173A>C
XR_001752642.1:n.3025A>C
XR_001752643.1:n.3649A>C
XR_002958073.1:n.3434A>C
XR_429823.3:n.3265-244A>C
XR_429824.3:n.3219A>C
NR_046431.2:n.3091A>C