Canonical Allele Identifier: CA152513

Gene: CTC1

Linked Data

• ClinVar Variation Id: 128860
• ClinVar RCV Id: RCV000116840 ; RCV000267880 ; RCV001650952 ; RCV001657710
• dbSNP Id: rs3027238
• ExAC: 17:8135061 T / C
• gnomAD v2: 17-8135061-T-C
• gnomAD v3: 17-8231743-T-C
• gnomAD v4: 17-8231743-T-C
• MyVariant Identifiers: chr17:g.8135061T>C (hg19) ; chr17:g.8231743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231743T>C , CM000679.2:g.8231743T>C	GRCh38
NC_000017.10:g.8135061T>C , CM000679.1:g.8135061T>C	GRCh37
NC_000017.9:g.8075786T>C	NCBI36
NG_032148.1:g.21353A>G
NG_032148.2:g.21353A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2458A>G	ENSP00000462607.2:p.Ile820Val
ENST00000581729.2:c.2458A>G	ENSP00000462720.2:p.Ile820Val
ENST00000581967.2:n.2910A>G
ENST00000583254.2:n.3251A>G
ENST00000699849.1:c.1561A>G	ENSP00000514647.1:p.Ile521Val
ENST00000699850.1:n.1721A>G
ENST00000699851.1:n.2480A>G
ENST00000699852.1:c.*1134A>G	ENSP00000514648.1:n.*1134A>G
ENST00000699853.1:c.2458A>G	ENSP00000514649.1:p.Ile820Val
ENST00000699854.1:n.2251A>G
ENST00000699855.1:n.2910A>G
ENST00000699856.1:c.2458A>G	ENSP00000514650.1:p.Ile820Val
ENST00000699857.1:n.2466A>G
ENST00000699858.1:c.*1071A>G	ENSP00000514651.1:n.*1071A>G
ENST00000699859.1:c.2329A>G	ENSP00000514652.1:p.Ile777Val
ENST00000699860.1:n.564A>G
ENST00000699861.1:n.2480A>G
ENST00000699862.1:n.3418A>G
ENST00000449476.7:c.2353A>G	ENSP00000396018.2:p.Ile785Val
ENST00000581671.2:n.2447A>G
ENST00000643543.1:c.*1165A>G	ENSP00000494323.1:n.*1165A>G
ENST00000651323.1:c.2458A>G MANE Select	ENSP00000498499.1:p.Ile820Val
ENST00000315684.12:c.2458A>G	ENSP00000313759.8:p.Ile820Val
ENST00000449476.6:c.2353A>G	ENSP00000396018.2:p.Ile785Val
ENST00000578240.1:n.686A>G
ENST00000578537.1:c.354A>G
NM_025099.5:c.2458A>G	NP_079375.3:p.Ile820Val
NR_046431.1:n.2412A>G
XM_006721577.2:c.2329A>G	XP_006721640.1:p.Ile777Val
XM_006721578.2:c.2458A>G	XP_006721641.1:p.Ile820Val
XM_006721579.2:c.2458A>G	XP_006721642.1:p.Ile820Val
XM_011524010.1:c.2353A>G	XP_011522312.1:p.Ile785Val
XM_011524011.1:c.1561A>G	XP_011522313.1:p.Ile521Val
XR_429823.2:n.2501A>G
XR_429824.2:n.2501A>G
XR_429825.1:n.2501A>G
NM_025099.6:c.2458A>G MANE Select	NP_079375.3:p.Ile820Val
XM_006721577.3:c.2329A>G	XP_006721640.1:p.Ile777Val
XM_006721578.3:c.2458A>G	XP_006721641.1:p.Ile820Val
XM_011524010.2:c.2353A>G	XP_011522312.1:p.Ile785Val
XM_011524011.2:c.1561A>G	XP_011522313.1:p.Ile521Val
XR_001752639.1:n.2372A>G
XR_001752640.1:n.2501A>G
XR_001752641.1:n.2501A>G
XR_001752642.1:n.2501A>G
XR_001752643.1:n.2931A>G
XR_002958073.1:n.2501A>G
XR_429823.3:n.2501A>G
XR_429824.3:n.2501A>G
NR_046431.2:n.2373A>G