Canonical Allele Identifier: CA8372160

Gene: CTC1

Linked Data

• dbSNP Id: rs756506667
• ExAC: 17:8135502 C / G
• gnomAD v2: 17-8135502-C-G
• MyVariant Identifiers: chr17:g.8135502C>G (hg19) ; chr17:g.8232184C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232184C>G , CM000679.2:g.8232184C>G	GRCh38
NC_000017.10:g.8135502C>G , CM000679.1:g.8135502C>G	GRCh37
NC_000017.9:g.8076227C>G	NCBI36
NG_032148.1:g.20912G>C
NG_032148.2:g.20912G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2104G>C	ENSP00000462607.2:p.Val702Leu
ENST00000581729.2:c.2104G>C	ENSP00000462720.2:p.Val702Leu
ENST00000581967.2:n.2556G>C
ENST00000583254.2:n.2810G>C
ENST00000699849.1:c.1207G>C	ENSP00000514647.1:p.Val403Leu
ENST00000699850.1:n.1367G>C
ENST00000699851.1:n.2126G>C
ENST00000699852.1:c.*780G>C	ENSP00000514648.1:n.*780G>C
ENST00000699853.1:c.2104G>C	ENSP00000514649.1:p.Val702Leu
ENST00000699854.1:n.1897G>C
ENST00000699855.1:n.2556G>C
ENST00000699856.1:c.2104G>C	ENSP00000514650.1:p.Val702Leu
ENST00000699857.1:n.2112G>C
ENST00000699858.1:c.*717G>C	ENSP00000514651.1:n.*717G>C
ENST00000699859.1:c.1975G>C	ENSP00000514652.1:p.Val659Leu
ENST00000699860.1:n.210G>C
ENST00000699861.1:n.2126G>C
ENST00000699862.1:n.3064G>C
ENST00000449476.7:c.1999G>C	ENSP00000396018.2:p.Val667Leu
ENST00000581671.2:n.2093G>C
ENST00000643543.1:c.*811G>C	ENSP00000494323.1:n.*811G>C
ENST00000651323.1:c.2104G>C MANE Select	ENSP00000498499.1:p.Val702Leu
ENST00000315684.12:c.2104G>C	ENSP00000313759.8:p.Val702Leu
ENST00000449476.6:c.1999G>C	ENSP00000396018.2:p.Val667Leu
ENST00000578240.1:n.332G>C
NM_025099.5:c.2104G>C	NP_079375.3:p.Val702Leu
NR_046431.1:n.2058G>C
XM_006721577.2:c.1975G>C	XP_006721640.1:p.Val659Leu
XM_006721578.2:c.2104G>C	XP_006721641.1:p.Val702Leu
XM_006721579.2:c.2104G>C	XP_006721642.1:p.Val702Leu
XM_011524010.1:c.1999G>C	XP_011522312.1:p.Val667Leu
XM_011524011.1:c.1207G>C	XP_011522313.1:p.Val403Leu
XR_429823.2:n.2147G>C
XR_429824.2:n.2147G>C
XR_429825.1:n.2147G>C
NM_025099.6:c.2104G>C MANE Select	NP_079375.3:p.Val702Leu
XM_006721577.3:c.1975G>C	XP_006721640.1:p.Val659Leu
XM_006721578.3:c.2104G>C	XP_006721641.1:p.Val702Leu
XM_011524010.2:c.1999G>C	XP_011522312.1:p.Val667Leu
XM_011524011.2:c.1207G>C	XP_011522313.1:p.Val403Leu
XR_001752639.1:n.2018G>C
XR_001752640.1:n.2147G>C
XR_001752641.1:n.2147G>C
XR_001752642.1:n.2147G>C
XR_001752643.1:n.2577G>C
XR_002958073.1:n.2147G>C
XR_429823.3:n.2147G>C
XR_429824.3:n.2147G>C
NR_046431.2:n.2019G>C