Canonical Allele Identifier: CA287533441

Gene: CTC1

Linked Data

• ClinVar Variation Id: 665276
• ClinVar RCV Id: RCV000823523
• dbSNP Id: rs375914513
• gnomAD v3: 17-8231760-C-T
• gnomAD v4: 17-8231760-C-T
• MyVariant Identifiers: chr17:g.8135078C>T (hg19) ; chr17:g.8231760C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231760C>T , CM000679.2:g.8231760C>T	GRCh38
NC_000017.10:g.8135078C>T , CM000679.1:g.8135078C>T	GRCh37
NC_000017.9:g.8075803C>T	NCBI36
NG_032148.1:g.21336G>A
NG_032148.2:g.21336G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2441G>A	ENSP00000462607.2:p.Gly814Glu
ENST00000581729.2:c.2441G>A	ENSP00000462720.2:p.Gly814Glu
ENST00000581967.2:n.2893G>A
ENST00000583254.2:n.3234G>A
ENST00000699849.1:c.1544G>A	ENSP00000514647.1:p.Gly515Glu
ENST00000699850.1:n.1704G>A
ENST00000699851.1:n.2463G>A
ENST00000699852.1:c.*1117G>A	ENSP00000514648.1:n.*1117G>A
ENST00000699853.1:c.2441G>A	ENSP00000514649.1:p.Gly814Glu
ENST00000699854.1:n.2234G>A
ENST00000699855.1:n.2893G>A
ENST00000699856.1:c.2441G>A	ENSP00000514650.1:p.Gly814Glu
ENST00000699857.1:n.2449G>A
ENST00000699858.1:c.*1054G>A	ENSP00000514651.1:n.*1054G>A
ENST00000699859.1:c.2312G>A	ENSP00000514652.1:p.Gly771Glu
ENST00000699860.1:n.547G>A
ENST00000699861.1:n.2463G>A
ENST00000699862.1:n.3401G>A
ENST00000449476.7:c.2336G>A	ENSP00000396018.2:p.Gly779Glu
ENST00000581671.2:n.2430G>A
ENST00000643543.1:c.*1148G>A	ENSP00000494323.1:n.*1148G>A
ENST00000651323.1:c.2441G>A MANE Select	ENSP00000498499.1:p.Gly814Glu
ENST00000315684.12:c.2441G>A	ENSP00000313759.8:p.Gly814Glu
ENST00000449476.6:c.2336G>A	ENSP00000396018.2:p.Gly779Glu
ENST00000578240.1:n.669G>A
ENST00000578537.1:c.337G>A
NM_025099.5:c.2441G>A	NP_079375.3:p.Gly814Glu
NR_046431.1:n.2395G>A
XM_006721577.2:c.2312G>A	XP_006721640.1:p.Gly771Glu
XM_006721578.2:c.2441G>A	XP_006721641.1:p.Gly814Glu
XM_006721579.2:c.2441G>A	XP_006721642.1:p.Gly814Glu
XM_011524010.1:c.2336G>A	XP_011522312.1:p.Gly779Glu
XM_011524011.1:c.1544G>A	XP_011522313.1:p.Gly515Glu
XR_429823.2:n.2484G>A
XR_429824.2:n.2484G>A
XR_429825.1:n.2484G>A
NM_025099.6:c.2441G>A MANE Select	NP_079375.3:p.Gly814Glu
XM_006721577.3:c.2312G>A	XP_006721640.1:p.Gly771Glu
XM_006721578.3:c.2441G>A	XP_006721641.1:p.Gly814Glu
XM_011524010.2:c.2336G>A	XP_011522312.1:p.Gly779Glu
XM_011524011.2:c.1544G>A	XP_011522313.1:p.Gly515Glu
XR_001752639.1:n.2355G>A
XR_001752640.1:n.2484G>A
XR_001752641.1:n.2484G>A
XR_001752642.1:n.2484G>A
XR_001752643.1:n.2914G>A
XR_002958073.1:n.2484G>A
XR_429823.3:n.2484G>A
XR_429824.3:n.2484G>A
NR_046431.2:n.2356G>A