Canonical Allele Identifier: CA287533382

Gene: CTC1

Linked Data

• ClinVar Variation Id: 2047297
• ClinVar RCV Id: RCV002904198
• dbSNP Id: rs915406565
• gnomAD v2: 17-8135046-C-G
• gnomAD v4: 17-8231728-C-G
• MyVariant Identifiers: chr17:g.8135046C>G (hg19) ; chr17:g.8231728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231728C>G , CM000679.2:g.8231728C>G	GRCh38
NC_000017.10:g.8135046C>G , CM000679.1:g.8135046C>G	GRCh37
NC_000017.9:g.8075771C>G	NCBI36
NG_032148.1:g.21368G>C
NG_032148.2:g.21368G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2473G>C	ENSP00000462607.2:p.Ala825Pro
ENST00000581729.2:c.2473G>C	ENSP00000462720.2:p.Ala825Pro
ENST00000581967.2:n.2925G>C
ENST00000583254.2:n.3266G>C
ENST00000699849.1:c.1576G>C	ENSP00000514647.1:p.Ala526Pro
ENST00000699850.1:n.1736G>C
ENST00000699851.1:n.2495G>C
ENST00000699852.1:c.*1149G>C	ENSP00000514648.1:n.*1149G>C
ENST00000699853.1:c.2473G>C	ENSP00000514649.1:p.Ala825Pro
ENST00000699854.1:n.2266G>C
ENST00000699855.1:n.2925G>C
ENST00000699856.1:c.2473G>C	ENSP00000514650.1:p.Ala825Pro
ENST00000699857.1:n.2481G>C
ENST00000699858.1:c.*1086G>C	ENSP00000514651.1:n.*1086G>C
ENST00000699859.1:c.2344G>C	ENSP00000514652.1:p.Ala782Pro
ENST00000699860.1:n.579G>C
ENST00000699861.1:n.2495G>C
ENST00000699862.1:n.3433G>C
ENST00000449476.7:c.2368G>C	ENSP00000396018.2:p.Ala790Pro
ENST00000581671.2:n.2462G>C
ENST00000643543.1:c.*1180G>C	ENSP00000494323.1:n.*1180G>C
ENST00000651323.1:c.2473G>C MANE Select	ENSP00000498499.1:p.Ala825Pro
ENST00000315684.12:c.2473G>C	ENSP00000313759.8:p.Ala825Pro
ENST00000449476.6:c.2368G>C	ENSP00000396018.2:p.Ala790Pro
ENST00000578240.1:n.701G>C
ENST00000578537.1:c.369G>C
NM_025099.5:c.2473G>C	NP_079375.3:p.Ala825Pro
NR_046431.1:n.2427G>C
XM_006721577.2:c.2344G>C	XP_006721640.1:p.Ala782Pro
XM_006721578.2:c.2473G>C	XP_006721641.1:p.Ala825Pro
XM_006721579.2:c.2473G>C	XP_006721642.1:p.Ala825Pro
XM_011524010.1:c.2368G>C	XP_011522312.1:p.Ala790Pro
XM_011524011.1:c.1576G>C	XP_011522313.1:p.Ala526Pro
XR_429823.2:n.2516G>C
XR_429824.2:n.2516G>C
XR_429825.1:n.2516G>C
NM_025099.6:c.2473G>C MANE Select	NP_079375.3:p.Ala825Pro
XM_006721577.3:c.2344G>C	XP_006721640.1:p.Ala782Pro
XM_006721578.3:c.2473G>C	XP_006721641.1:p.Ala825Pro
XM_011524010.2:c.2368G>C	XP_011522312.1:p.Ala790Pro
XM_011524011.2:c.1576G>C	XP_011522313.1:p.Ala526Pro
XR_001752639.1:n.2387G>C
XR_001752640.1:n.2516G>C
XR_001752641.1:n.2516G>C
XR_001752642.1:n.2516G>C
XR_001752643.1:n.2946G>C
XR_002958073.1:n.2516G>C
XR_429823.3:n.2516G>C
XR_429824.3:n.2516G>C
NR_046431.2:n.2388G>C