Canonical Allele Identifier: CA397979188

Gene: CTC1

Linked Data

• MyVariant Identifiers: chr17:g.8135532A>C (hg19) ; chr17:g.8232214A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232214A>C , CM000679.2:g.8232214A>C	GRCh38
NC_000017.10:g.8135532A>C , CM000679.1:g.8135532A>C	GRCh37
NC_000017.9:g.8076257A>C	NCBI36
NG_032148.1:g.20882T>G
NG_032148.2:g.20882T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2074T>G	ENSP00000462607.2:p.Phe692Val
ENST00000581729.2:c.2074T>G	ENSP00000462720.2:p.Phe692Val
ENST00000581967.2:n.2526T>G
ENST00000583254.2:n.2780T>G
ENST00000699849.1:c.1177T>G	ENSP00000514647.1:p.Phe393Val
ENST00000699850.1:n.1337T>G
ENST00000699851.1:n.2096T>G
ENST00000699852.1:c.*750T>G	ENSP00000514648.1:n.*750T>G
ENST00000699853.1:c.2074T>G	ENSP00000514649.1:p.Phe692Val
ENST00000699854.1:n.1867T>G
ENST00000699855.1:n.2526T>G
ENST00000699856.1:c.2074T>G	ENSP00000514650.1:p.Phe692Val
ENST00000699857.1:n.2082T>G
ENST00000699858.1:c.*687T>G	ENSP00000514651.1:n.*687T>G
ENST00000699859.1:c.1945T>G	ENSP00000514652.1:p.Phe649Val
ENST00000699860.1:n.180T>G
ENST00000699861.1:n.2096T>G
ENST00000699862.1:n.3034T>G
ENST00000449476.7:c.1969T>G	ENSP00000396018.2:p.Phe657Val
ENST00000581671.2:n.2063T>G
ENST00000643543.1:c.*781T>G	ENSP00000494323.1:n.*781T>G
ENST00000651323.1:c.2074T>G MANE Select	ENSP00000498499.1:p.Phe692Val
ENST00000315684.12:c.2074T>G	ENSP00000313759.8:p.Phe692Val
ENST00000449476.6:c.1969T>G	ENSP00000396018.2:p.Phe657Val
ENST00000578240.1:n.302T>G
NM_025099.5:c.2074T>G	NP_079375.3:p.Phe692Val
NR_046431.1:n.2028T>G
XM_006721577.2:c.1945T>G	XP_006721640.1:p.Phe649Val
XM_006721578.2:c.2074T>G	XP_006721641.1:p.Phe692Val
XM_006721579.2:c.2074T>G	XP_006721642.1:p.Phe692Val
XM_011524010.1:c.1969T>G	XP_011522312.1:p.Phe657Val
XM_011524011.1:c.1177T>G	XP_011522313.1:p.Phe393Val
XR_429823.2:n.2117T>G
XR_429824.2:n.2117T>G
XR_429825.1:n.2117T>G
NM_025099.6:c.2074T>G MANE Select	NP_079375.3:p.Phe692Val
XM_006721577.3:c.1945T>G	XP_006721640.1:p.Phe649Val
XM_006721578.3:c.2074T>G	XP_006721641.1:p.Phe692Val
XM_011524010.2:c.1969T>G	XP_011522312.1:p.Phe657Val
XM_011524011.2:c.1177T>G	XP_011522313.1:p.Phe393Val
XR_001752639.1:n.1988T>G
XR_001752640.1:n.2117T>G
XR_001752641.1:n.2117T>G
XR_001752642.1:n.2117T>G
XR_001752643.1:n.2547T>G
XR_002958073.1:n.2117T>G
XR_429823.3:n.2117T>G
XR_429824.3:n.2117T>G
NR_046431.2:n.1989T>G