Canonical Allele Identifier: CA397976195

Gene: CTC1

Linked Data

• ClinVar Variation Id: 2086350
• ClinVar RCV Id: RCV003015463
• gnomAD v4: 17-8231433-T-C
• MyVariant Identifiers: chr17:g.8134751T>C (hg19) ; chr17:g.8231433T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231433T>C , CM000679.2:g.8231433T>C	GRCh38
NC_000017.10:g.8134751T>C , CM000679.1:g.8134751T>C	GRCh37
NC_000017.9:g.8075476T>C	NCBI36
NG_032148.1:g.21663A>G
NG_032148.2:g.21663A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000580299.2:c.2512A>G	ENSP00000462607.2:p.Ile838Val
ENST00000581729.2:c.2512A>G	ENSP00000462720.2:p.Ile838Val
ENST00000581967.2:n.2964A>G
ENST00000583254.2:n.3561A>G
ENST00000699849.1:c.1615A>G	ENSP00000514647.1:p.Ile539Val
ENST00000699850.1:n.1775A>G
ENST00000699851.1:n.2534A>G
ENST00000699852.1:c.*1188A>G	ENSP00000514648.1:n.*1188A>G
ENST00000699853.1:c.2512A>G	ENSP00000514649.1:p.Ile838Val
ENST00000699854.1:n.2305A>G
ENST00000699855.1:n.2964A>G
ENST00000699856.1:c.2512A>G	ENSP00000514650.1:p.Ile838Val
ENST00000699857.1:n.2520A>G
ENST00000699858.1:c.*1125A>G	ENSP00000514651.1:n.*1125A>G
ENST00000699859.1:c.2383A>G	ENSP00000514652.1:p.Ile795Val
ENST00000699860.1:n.581+293A>G
ENST00000699861.1:n.2534A>G
ENST00000699862.1:n.3472A>G
ENST00000449476.7:c.2407A>G	ENSP00000396018.2:p.Ile803Val
ENST00000581671.2:n.2501A>G
ENST00000643543.1:c.*1219A>G	ENSP00000494323.1:n.*1219A>G
ENST00000651323.1:c.2512A>G MANE Select	ENSP00000498499.1:p.Ile838Val
ENST00000315684.12:c.2512A>G	ENSP00000313759.8:p.Ile838Val
ENST00000449476.6:c.2407A>G	ENSP00000396018.2:p.Ile803Val
ENST00000578240.1:n.740A>G
ENST00000578441.5:n.13A>G
ENST00000578537.1:c.371+293A>G
NM_025099.5:c.2512A>G	NP_079375.3:p.Ile838Val
NR_046431.1:n.2466A>G
XM_006721577.2:c.2383A>G	XP_006721640.1:p.Ile795Val
XM_006721578.2:c.2512A>G	XP_006721641.1:p.Ile838Val
XM_006721579.2:c.2512A>G	XP_006721642.1:p.Ile838Val
XM_011524010.1:c.2407A>G	XP_011522312.1:p.Ile803Val
XM_011524011.1:c.1615A>G	XP_011522313.1:p.Ile539Val
XR_429823.2:n.2555A>G
XR_429824.2:n.2555A>G
XR_429825.1:n.2518+293A>G
NM_025099.6:c.2512A>G MANE Select	NP_079375.3:p.Ile838Val
XM_006721577.3:c.2383A>G	XP_006721640.1:p.Ile795Val
XM_006721578.3:c.2512A>G	XP_006721641.1:p.Ile838Val
XM_011524010.2:c.2407A>G	XP_011522312.1:p.Ile803Val
XM_011524011.2:c.1615A>G	XP_011522313.1:p.Ile539Val
XR_001752639.1:n.2426A>G
XR_001752640.1:n.2555A>G
XR_001752641.1:n.2555A>G
XR_001752642.1:n.2518+293A>G
XR_001752643.1:n.2985A>G
XR_002958073.1:n.2518+293A>G
XR_429823.3:n.2555A>G
XR_429824.3:n.2555A>G
NR_046431.2:n.2427A>G