Canonical Allele Identifier: CA397979837

Gene: CTC1

Linked Data

• dbSNP Id: rs751450242
• gnomAD v3: 17-8232428-C-G
• gnomAD v4: 17-8232428-C-G
• MyVariant Identifiers: chr17:g.8135746C>G (hg19) ; chr17:g.8232428C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232428C>G , CM000679.2:g.8232428C>G	GRCh38
NC_000017.10:g.8135746C>G , CM000679.1:g.8135746C>G	GRCh37
NC_000017.9:g.8076471C>G	NCBI36
NG_032148.1:g.20668G>C
NG_032148.2:g.20668G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000580299.2:c.1993G>C	ENSP00000462607.2:p.Val665Leu
ENST00000581729.2:c.1993G>C	ENSP00000462720.2:p.Val665Leu
ENST00000581967.2:n.2445G>C
ENST00000583254.2:n.2699G>C
ENST00000699849.1:c.1096G>C	ENSP00000514647.1:p.Val366Leu
ENST00000699850.1:n.1256G>C
ENST00000699851.1:n.2015G>C
ENST00000699852.1:c.*669G>C	ENSP00000514648.1:n.*669G>C
ENST00000699853.1:c.1993G>C	ENSP00000514649.1:p.Val665Leu
ENST00000699854.1:n.1786G>C
ENST00000699855.1:n.2445G>C
ENST00000699856.1:c.1993G>C	ENSP00000514650.1:p.Val665Leu
ENST00000699857.1:n.2001G>C
ENST00000699858.1:c.*606G>C	ENSP00000514651.1:n.*606G>C
ENST00000699859.1:c.1864G>C	ENSP00000514652.1:p.Val622Leu
ENST00000699860.1:n.99G>C
ENST00000699861.1:n.2015G>C
ENST00000699862.1:n.2953G>C
ENST00000449476.7:c.1888G>C	ENSP00000396018.2:p.Val630Leu
ENST00000581671.2:n.1982G>C
ENST00000643543.1:c.*700G>C	ENSP00000494323.1:n.*700G>C
ENST00000651323.1:c.1993G>C MANE Select	ENSP00000498499.1:p.Val665Leu
ENST00000315684.12:c.1993G>C	ENSP00000313759.8:p.Val665Leu
ENST00000449476.6:c.1888G>C	ENSP00000396018.2:p.Val630Leu
ENST00000578240.1:n.221G>C
NM_025099.5:c.1993G>C	NP_079375.3:p.Val665Leu
NR_046431.1:n.1947G>C
XM_006721577.2:c.1864G>C	XP_006721640.1:p.Val622Leu
XM_006721578.2:c.1993G>C	XP_006721641.1:p.Val665Leu
XM_006721579.2:c.1993G>C	XP_006721642.1:p.Val665Leu
XM_011524010.1:c.1888G>C	XP_011522312.1:p.Val630Leu
XM_011524011.1:c.1096G>C	XP_011522313.1:p.Val366Leu
XR_429823.2:n.2036G>C
XR_429824.2:n.2036G>C
XR_429825.1:n.2036G>C
NM_025099.6:c.1993G>C MANE Select	NP_079375.3:p.Val665Leu
XM_006721577.3:c.1864G>C	XP_006721640.1:p.Val622Leu
XM_006721578.3:c.1993G>C	XP_006721641.1:p.Val665Leu
XM_011524010.2:c.1888G>C	XP_011522312.1:p.Val630Leu
XM_011524011.2:c.1096G>C	XP_011522313.1:p.Val366Leu
XR_001752639.1:n.1907G>C
XR_001752640.1:n.2036G>C
XR_001752641.1:n.2036G>C
XR_001752642.1:n.2036G>C
XR_001752643.1:n.2466G>C
XR_001752644.1:n.2322G>C
XR_002958073.1:n.2036G>C
XR_429823.3:n.2036G>C
XR_429824.3:n.2036G>C
NR_046431.2:n.1908G>C