Canonical Allele Identifier: CA397969552

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8229140A>G , CM000679.2:g.8229140A>G	GRCh38
NC_000017.10:g.8132458A>G , CM000679.1:g.8132458A>G	GRCh37
NC_000017.9:g.8073183A>G	NCBI36
NG_032148.1:g.23956T>C
NG_032148.2:g.23956T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025099.6:c.3221+2T>C MANE Select	NP_079375.3:n.3221+2T>C
ENST00000651323.1:c.3221+2T>C MANE Select	ENSP00000498499.1:n.3221+2T>C
NM_025099.5:c.3221+2T>C	NP_079375.3:n.3221+2T>C
NR_046431.1:n.3110+162T>C
NR_046431.2:n.3071+162T>C
ENST00000315684.12:c.3221+2T>C	ENSP00000313759.8:n.3221+2T>C
ENST00000449476.6:c.3051+162T>C	ENSP00000396018.2:n.3051+162T>C
ENST00000449476.7:c.3051+162T>C	ENSP00000396018.2:n.3051+162T>C
ENST00000578441.5:n.673+2T>C
ENST00000578537.1:c.877+2T>C
ENST00000580299.1:c.294+195T>C	ENSP00000462607.1:n.294+195T>C
ENST00000580299.2:c.3123+195T>C	ENSP00000462607.2:n.3123+195T>C
ENST00000581671.2:n.3210+2T>C
ENST00000581729.1:c.104+162T>C
ENST00000581729.2:c.3156+162T>C	ENSP00000462720.2:n.3156+162T>C
ENST00000581967.2:n.3608+162T>C
ENST00000643543.1:c.*1928+2T>C	ENSP00000494323.1:n.*1928+2T>C
ENST00000699849.1:c.2259+162T>C	ENSP00000514647.1:n.2259+162T>C
ENST00000699850.1:n.2906T>C
ENST00000699851.1:n.4107+2T>C
ENST00000699852.1:c.*1734+162T>C	ENSP00000514648.1:n.*1734+162T>C
ENST00000699853.1:c.3221+2T>C	ENSP00000514649.1:n.3221+2T>C
ENST00000699854.1:n.3436T>C
ENST00000699855.1:n.4000T>C
ENST00000699856.1:c.*170+162T>C	ENSP00000514650.1:n.*170+162T>C
ENST00000699857.1:n.3553T>C
ENST00000699858.1:c.*2256T>C	ENSP00000514651.1:n.*2256T>C
ENST00000699859.1:c.3027+162T>C	ENSP00000514652.1:n.3027+162T>C
ENST00000699860.1:n.1555T>C
ENST00000699861.1:n.3340T>C
XM_006721577.2:c.3092+2T>C	XP_006721640.1:n.3092+2T>C
XM_006721577.3:c.3092+2T>C	XP_006721640.1:n.3092+2T>C
XM_006721578.2:c.3156+162T>C	XP_006721641.1:n.3156+162T>C
XM_006721578.3:c.3156+162T>C	XP_006721641.1:n.3156+162T>C
XM_011524010.1:c.3116+2T>C	XP_011522312.1:n.3116+2T>C
XM_011524010.2:c.3116+2T>C	XP_011522312.1:n.3116+2T>C
XM_011524011.1:c.2324+2T>C	XP_011522313.1:n.2324+2T>C
XM_011524011.2:c.2324+2T>C	XP_011522313.1:n.2324+2T>C
XR_001752639.1:n.3070+162T>C
XR_001752640.1:n.3218+2T>C
XR_001752641.1:n.3153+162T>C
XR_001752642.1:n.3005+162T>C
XR_001752643.1:n.3629+162T>C
XR_002958073.1:n.3167T>C
XR_429823.2:n.3264+2T>C
XR_429823.3:n.3264+2T>C
XR_429824.2:n.3199+162T>C
XR_429824.3:n.3199+162T>C
XR_429825.1:n.3070+2T>C