Canonical Allele Identifier: CA397975574
Gene: CTC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8231335A>C , CM000679.2:g.8231335A>C GRCh38
NC_000017.10:g.8134653A>C , CM000679.1:g.8134653A>C GRCh37
NC_000017.9:g.8075378A>C NCBI36
NG_032148.1:g.21761T>G
NG_032148.2:g.21761T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000580299.2:c.2610T>G ENSP00000462607.2:p.Asp870Glu
ENST00000581729.2:c.2610T>G ENSP00000462720.2:p.Asp870Glu
ENST00000581967.2:n.3062T>G
ENST00000583254.2:n.3659T>G
ENST00000699849.1:c.1713T>G ENSP00000514647.1:p.Asp571Glu
ENST00000699850.1:n.1873T>G
ENST00000699851.1:n.2632T>G
ENST00000699852.1:c.*1286T>G ENSP00000514648.1:n.*1286T>G
ENST00000699853.1:c.2610T>G ENSP00000514649.1:p.Asp870Glu
ENST00000699854.1:n.2403T>G
ENST00000699855.1:n.3062T>G
ENST00000699856.1:c.2610T>G ENSP00000514650.1:p.Asp870Glu
ENST00000699857.1:n.2618T>G
ENST00000699858.1:c.*1223T>G ENSP00000514651.1:n.*1223T>G
ENST00000699859.1:c.2481T>G ENSP00000514652.1:p.Asp827Glu
ENST00000699860.1:n.581+391T>G
ENST00000699861.1:n.2632T>G
ENST00000699862.1:n.3570T>G
ENST00000449476.7:c.2505T>G ENSP00000396018.2:p.Asp835Glu
ENST00000581671.2:n.2599T>G
ENST00000643543.1:c.*1317T>G ENSP00000494323.1:n.*1317T>G
ENST00000651323.1:c.2610T>G MANE Select ENSP00000498499.1:p.Asp870Glu
ENST00000315684.12:c.2610T>G ENSP00000313759.8:p.Asp870Glu
ENST00000449476.6:c.2505T>G ENSP00000396018.2:p.Asp835Glu
ENST00000578240.1:n.838T>G
ENST00000578441.5:n.111T>G
ENST00000578537.1:c.371+391T>G
NM_025099.5:c.2610T>G NP_079375.3:p.Asp870Glu
NR_046431.1:n.2564T>G
XM_006721577.2:c.2481T>G XP_006721640.1:p.Asp827Glu
XM_006721578.2:c.2610T>G XP_006721641.1:p.Asp870Glu
XM_006721579.2:c.2610T>G XP_006721642.1:p.Asp870Glu
XM_011524010.1:c.2505T>G XP_011522312.1:p.Asp835Glu
XM_011524011.1:c.1713T>G XP_011522313.1:p.Asp571Glu
XR_429823.2:n.2653T>G
XR_429824.2:n.2653T>G
XR_429825.1:n.2518+391T>G
NM_025099.6:c.2610T>G MANE Select NP_079375.3:p.Asp870Glu
XM_006721577.3:c.2481T>G XP_006721640.1:p.Asp827Glu
XM_006721578.3:c.2610T>G XP_006721641.1:p.Asp870Glu
XM_011524010.2:c.2505T>G XP_011522312.1:p.Asp835Glu
XM_011524011.2:c.1713T>G XP_011522313.1:p.Asp571Glu
XR_001752639.1:n.2524T>G
XR_001752640.1:n.2653T>G
XR_001752641.1:n.2653T>G
XR_001752642.1:n.2518+391T>G
XR_001752643.1:n.3083T>G
XR_002958073.1:n.2518+391T>G
XR_429823.3:n.2653T>G
XR_429824.3:n.2653T>G
NR_046431.2:n.2525T>G