Canonical Allele Identifier: CA8372167

Gene: CTC1

Linked Data

• dbSNP Id: rs775416699
• ExAC: 17:8135538 C / T
• gnomAD v2: 17-8135538-C-T
• gnomAD v3: 17-8232220-C-T
• gnomAD v4: 17-8232220-C-T
• MyVariant Identifiers: chr17:g.8135538C>T (hg19) ; chr17:g.8232220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232220C>T , CM000679.2:g.8232220C>T	GRCh38
NC_000017.10:g.8135538C>T , CM000679.1:g.8135538C>T	GRCh37
NC_000017.9:g.8076263C>T	NCBI36
NG_032148.1:g.20876G>A
NG_032148.2:g.20876G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2068G>A	ENSP00000462607.2:p.Val690Ile
ENST00000581729.2:c.2068G>A	ENSP00000462720.2:p.Val690Ile
ENST00000581967.2:n.2520G>A
ENST00000583254.2:n.2774G>A
ENST00000699849.1:c.1171G>A	ENSP00000514647.1:p.Val391Ile
ENST00000699850.1:n.1331G>A
ENST00000699851.1:n.2090G>A
ENST00000699852.1:c.*744G>A	ENSP00000514648.1:n.*744G>A
ENST00000699853.1:c.2068G>A	ENSP00000514649.1:p.Val690Ile
ENST00000699854.1:n.1861G>A
ENST00000699855.1:n.2520G>A
ENST00000699856.1:c.2068G>A	ENSP00000514650.1:p.Val690Ile
ENST00000699857.1:n.2076G>A
ENST00000699858.1:c.*681G>A	ENSP00000514651.1:n.*681G>A
ENST00000699859.1:c.1939G>A	ENSP00000514652.1:p.Val647Ile
ENST00000699860.1:n.174G>A
ENST00000699861.1:n.2090G>A
ENST00000699862.1:n.3028G>A
ENST00000449476.7:c.1963G>A	ENSP00000396018.2:p.Val655Ile
ENST00000581671.2:n.2057G>A
ENST00000643543.1:c.*775G>A	ENSP00000494323.1:n.*775G>A
ENST00000651323.1:c.2068G>A MANE Select	ENSP00000498499.1:p.Val690Ile
ENST00000315684.12:c.2068G>A	ENSP00000313759.8:p.Val690Ile
ENST00000449476.6:c.1963G>A	ENSP00000396018.2:p.Val655Ile
ENST00000578240.1:n.296G>A
NM_025099.5:c.2068G>A	NP_079375.3:p.Val690Ile
NR_046431.1:n.2022G>A
XM_006721577.2:c.1939G>A	XP_006721640.1:p.Val647Ile
XM_006721578.2:c.2068G>A	XP_006721641.1:p.Val690Ile
XM_006721579.2:c.2068G>A	XP_006721642.1:p.Val690Ile
XM_011524010.1:c.1963G>A	XP_011522312.1:p.Val655Ile
XM_011524011.1:c.1171G>A	XP_011522313.1:p.Val391Ile
XR_429823.2:n.2111G>A
XR_429824.2:n.2111G>A
XR_429825.1:n.2111G>A
NM_025099.6:c.2068G>A MANE Select	NP_079375.3:p.Val690Ile
XM_006721577.3:c.1939G>A	XP_006721640.1:p.Val647Ile
XM_006721578.3:c.2068G>A	XP_006721641.1:p.Val690Ile
XM_011524010.2:c.1963G>A	XP_011522312.1:p.Val655Ile
XM_011524011.2:c.1171G>A	XP_011522313.1:p.Val391Ile
XR_001752639.1:n.1982G>A
XR_001752640.1:n.2111G>A
XR_001752641.1:n.2111G>A
XR_001752642.1:n.2111G>A
XR_001752643.1:n.2541G>A
XR_002958073.1:n.2111G>A
XR_429823.3:n.2111G>A
XR_429824.3:n.2111G>A
NR_046431.2:n.1983G>A