Canonical Allele Identifier: CA397975965

Gene: CTC1

Linked Data

• MyVariant Identifiers: chr17:g.8134711C>T (hg19) ; chr17:g.8231393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231393C>T , CM000679.2:g.8231393C>T	GRCh38
NC_000017.10:g.8134711C>T , CM000679.1:g.8134711C>T	GRCh37
NC_000017.9:g.8075436C>T	NCBI36
NG_032148.1:g.21703G>A
NG_032148.2:g.21703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2552G>A	ENSP00000462607.2:p.Cys851Tyr
ENST00000581729.2:c.2552G>A	ENSP00000462720.2:p.Cys851Tyr
ENST00000581967.2:n.3004G>A
ENST00000583254.2:n.3601G>A
ENST00000699849.1:c.1655G>A	ENSP00000514647.1:p.Cys552Tyr
ENST00000699850.1:n.1815G>A
ENST00000699851.1:n.2574G>A
ENST00000699852.1:c.*1228G>A	ENSP00000514648.1:n.*1228G>A
ENST00000699853.1:c.2552G>A	ENSP00000514649.1:p.Cys851Tyr
ENST00000699854.1:n.2345G>A
ENST00000699855.1:n.3004G>A
ENST00000699856.1:c.2552G>A	ENSP00000514650.1:p.Cys851Tyr
ENST00000699857.1:n.2560G>A
ENST00000699858.1:c.*1165G>A	ENSP00000514651.1:n.*1165G>A
ENST00000699859.1:c.2423G>A	ENSP00000514652.1:p.Cys808Tyr
ENST00000699860.1:n.581+333G>A
ENST00000699861.1:n.2574G>A
ENST00000699862.1:n.3512G>A
ENST00000449476.7:c.2447G>A	ENSP00000396018.2:p.Cys816Tyr
ENST00000581671.2:n.2541G>A
ENST00000643543.1:c.*1259G>A	ENSP00000494323.1:n.*1259G>A
ENST00000651323.1:c.2552G>A MANE Select	ENSP00000498499.1:p.Cys851Tyr
ENST00000315684.12:c.2552G>A	ENSP00000313759.8:p.Cys851Tyr
ENST00000449476.6:c.2447G>A	ENSP00000396018.2:p.Cys816Tyr
ENST00000578240.1:n.780G>A
ENST00000578441.5:n.53G>A
ENST00000578537.1:c.371+333G>A
NM_025099.5:c.2552G>A	NP_079375.3:p.Cys851Tyr
NR_046431.1:n.2506G>A
XM_006721577.2:c.2423G>A	XP_006721640.1:p.Cys808Tyr
XM_006721578.2:c.2552G>A	XP_006721641.1:p.Cys851Tyr
XM_006721579.2:c.2552G>A	XP_006721642.1:p.Cys851Tyr
XM_011524010.1:c.2447G>A	XP_011522312.1:p.Cys816Tyr
XM_011524011.1:c.1655G>A	XP_011522313.1:p.Cys552Tyr
XR_429823.2:n.2595G>A
XR_429824.2:n.2595G>A
XR_429825.1:n.2518+333G>A
NM_025099.6:c.2552G>A MANE Select	NP_079375.3:p.Cys851Tyr
XM_006721577.3:c.2423G>A	XP_006721640.1:p.Cys808Tyr
XM_006721578.3:c.2552G>A	XP_006721641.1:p.Cys851Tyr
XM_011524010.2:c.2447G>A	XP_011522312.1:p.Cys816Tyr
XM_011524011.2:c.1655G>A	XP_011522313.1:p.Cys552Tyr
XR_001752639.1:n.2466G>A
XR_001752640.1:n.2595G>A
XR_001752641.1:n.2595G>A
XR_001752642.1:n.2518+333G>A
XR_001752643.1:n.3025G>A
XR_002958073.1:n.2518+333G>A
XR_429823.3:n.2595G>A
XR_429824.3:n.2595G>A
NR_046431.2:n.2467G>A