Canonical Allele Identifier: CA8372126

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231997T>C , CM000679.2:g.8231997T>C	GRCh38
NC_000017.10:g.8135315T>C , CM000679.1:g.8135315T>C	GRCh37
NC_000017.9:g.8076040T>C	NCBI36
NG_032148.1:g.21099A>G
NG_032148.2:g.21099A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025099.6:c.2291A>G MANE Select	NP_079375.3:p.Tyr764Cys
ENST00000651323.1:c.2291A>G MANE Select	ENSP00000498499.1:p.Tyr764Cys
NM_025099.5:c.2291A>G	NP_079375.3:p.Tyr764Cys
NR_046431.1:n.2245A>G
NR_046431.2:n.2206A>G
ENST00000315684.12:c.2291A>G	ENSP00000313759.8:p.Tyr764Cys
ENST00000449476.6:c.2186A>G	ENSP00000396018.2:p.Tyr729Cys
ENST00000449476.7:c.2186A>G	ENSP00000396018.2:p.Tyr729Cys
ENST00000578240.1:n.519A>G
ENST00000578537.1:c.187A>G
ENST00000580299.2:c.2291A>G	ENSP00000462607.2:p.Tyr764Cys
ENST00000581671.2:n.2280A>G
ENST00000581729.2:c.2291A>G	ENSP00000462720.2:p.Tyr764Cys
ENST00000581967.2:n.2743A>G
ENST00000583254.2:n.2997A>G
ENST00000643543.1:c.*998A>G	ENSP00000494323.1:n.*998A>G
ENST00000699849.1:c.1394A>G	ENSP00000514647.1:p.Tyr465Cys
ENST00000699850.1:n.1554A>G
ENST00000699851.1:n.2313A>G
ENST00000699852.1:c.*967A>G	ENSP00000514648.1:n.*967A>G
ENST00000699853.1:c.2291A>G	ENSP00000514649.1:p.Tyr764Cys
ENST00000699854.1:n.2084A>G
ENST00000699855.1:n.2743A>G
ENST00000699856.1:c.2291A>G	ENSP00000514650.1:p.Tyr764Cys
ENST00000699857.1:n.2299A>G
ENST00000699858.1:c.*904A>G	ENSP00000514651.1:n.*904A>G
ENST00000699859.1:c.2162A>G	ENSP00000514652.1:p.Tyr721Cys
ENST00000699860.1:n.397A>G
ENST00000699861.1:n.2313A>G
ENST00000699862.1:n.3251A>G
XM_006721577.2:c.2162A>G	XP_006721640.1:p.Tyr721Cys
XM_006721577.3:c.2162A>G	XP_006721640.1:p.Tyr721Cys
XM_006721578.2:c.2291A>G	XP_006721641.1:p.Tyr764Cys
XM_006721578.3:c.2291A>G	XP_006721641.1:p.Tyr764Cys
XM_006721579.2:c.2291A>G	XP_006721642.1:p.Tyr764Cys
XM_011524010.1:c.2186A>G	XP_011522312.1:p.Tyr729Cys
XM_011524010.2:c.2186A>G	XP_011522312.1:p.Tyr729Cys
XM_011524011.1:c.1394A>G	XP_011522313.1:p.Tyr465Cys
XM_011524011.2:c.1394A>G	XP_011522313.1:p.Tyr465Cys
XR_001752639.1:n.2205A>G
XR_001752640.1:n.2334A>G
XR_001752641.1:n.2334A>G
XR_001752642.1:n.2334A>G
XR_001752643.1:n.2764A>G
XR_002958073.1:n.2334A>G
XR_429823.2:n.2334A>G
XR_429823.3:n.2334A>G
XR_429824.2:n.2334A>G
XR_429824.3:n.2334A>G
XR_429825.1:n.2334A>G