Canonical Allele Identifier: CA8372045

Gene: CTC1

Linked Data

• dbSNP Id: rs766905320
• ExAC: 17:8134764 A / C
• gnomAD v2: 17-8134764-A-C
• MyVariant Identifiers: chr17:g.8134764A>C (hg19) ; chr17:g.8231446A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231446A>C , CM000679.2:g.8231446A>C	GRCh38
NC_000017.10:g.8134764A>C , CM000679.1:g.8134764A>C	GRCh37
NC_000017.9:g.8075489A>C	NCBI36
NG_032148.1:g.21650T>G
NG_032148.2:g.21650T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2499T>G	ENSP00000462607.2:p.Asp833Glu
ENST00000581729.2:c.2499T>G	ENSP00000462720.2:p.Asp833Glu
ENST00000581967.2:n.2951T>G
ENST00000583254.2:n.3548T>G
ENST00000699849.1:c.1602T>G	ENSP00000514647.1:p.Asp534Glu
ENST00000699850.1:n.1762T>G
ENST00000699851.1:n.2521T>G
ENST00000699852.1:c.*1175T>G	ENSP00000514648.1:n.*1175T>G
ENST00000699853.1:c.2499T>G	ENSP00000514649.1:p.Asp833Glu
ENST00000699854.1:n.2292T>G
ENST00000699855.1:n.2951T>G
ENST00000699856.1:c.2499T>G	ENSP00000514650.1:p.Asp833Glu
ENST00000699857.1:n.2507T>G
ENST00000699858.1:c.*1112T>G	ENSP00000514651.1:n.*1112T>G
ENST00000699859.1:c.2370T>G	ENSP00000514652.1:p.Asp790Glu
ENST00000699860.1:n.581+280T>G
ENST00000699861.1:n.2521T>G
ENST00000699862.1:n.3459T>G
ENST00000449476.7:c.2394T>G	ENSP00000396018.2:p.Asp798Glu
ENST00000581671.2:n.2488T>G
ENST00000643543.1:c.*1206T>G	ENSP00000494323.1:n.*1206T>G
ENST00000651323.1:c.2499T>G MANE Select	ENSP00000498499.1:p.Asp833Glu
ENST00000315684.12:c.2499T>G	ENSP00000313759.8:p.Asp833Glu
ENST00000449476.6:c.2394T>G	ENSP00000396018.2:p.Asp798Glu
ENST00000578240.1:n.727T>G
ENST00000578537.1:c.371+280T>G
NM_025099.5:c.2499T>G	NP_079375.3:p.Asp833Glu
NR_046431.1:n.2453T>G
XM_006721577.2:c.2370T>G	XP_006721640.1:p.Asp790Glu
XM_006721578.2:c.2499T>G	XP_006721641.1:p.Asp833Glu
XM_006721579.2:c.2499T>G	XP_006721642.1:p.Asp833Glu
XM_011524010.1:c.2394T>G	XP_011522312.1:p.Asp798Glu
XM_011524011.1:c.1602T>G	XP_011522313.1:p.Asp534Glu
XR_429823.2:n.2542T>G
XR_429824.2:n.2542T>G
XR_429825.1:n.2518+280T>G
NM_025099.6:c.2499T>G MANE Select	NP_079375.3:p.Asp833Glu
XM_006721577.3:c.2370T>G	XP_006721640.1:p.Asp790Glu
XM_006721578.3:c.2499T>G	XP_006721641.1:p.Asp833Glu
XM_011524010.2:c.2394T>G	XP_011522312.1:p.Asp798Glu
XM_011524011.2:c.1602T>G	XP_011522313.1:p.Asp534Glu
XR_001752639.1:n.2413T>G
XR_001752640.1:n.2542T>G
XR_001752641.1:n.2542T>G
XR_001752642.1:n.2518+280T>G
XR_001752643.1:n.2972T>G
XR_002958073.1:n.2518+280T>G
XR_429823.3:n.2542T>G
XR_429824.3:n.2542T>G
NR_046431.2:n.2414T>G