Canonical Allele Identifier: CA397976205

Gene: CTC1

Linked Data

• ClinVar Variation Id: 1059763
• ClinVar RCV Id: RCV001369117
• dbSNP Id: rs377390001
• MyVariant Identifiers: chr17:g.8134753C>T (hg19) ; chr17:g.8231435C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231435C>T , CM000679.2:g.8231435C>T	GRCh38
NC_000017.10:g.8134753C>T , CM000679.1:g.8134753C>T	GRCh37
NC_000017.9:g.8075478C>T	NCBI36
NG_032148.1:g.21661G>A
NG_032148.2:g.21661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2510G>A	ENSP00000462607.2:p.Cys837Tyr
ENST00000581729.2:c.2510G>A	ENSP00000462720.2:p.Cys837Tyr
ENST00000581967.2:n.2962G>A
ENST00000583254.2:n.3559G>A
ENST00000699849.1:c.1613G>A	ENSP00000514647.1:p.Cys538Tyr
ENST00000699850.1:n.1773G>A
ENST00000699851.1:n.2532G>A
ENST00000699852.1:c.*1186G>A	ENSP00000514648.1:n.*1186G>A
ENST00000699853.1:c.2510G>A	ENSP00000514649.1:p.Cys837Tyr
ENST00000699854.1:n.2303G>A
ENST00000699855.1:n.2962G>A
ENST00000699856.1:c.2510G>A	ENSP00000514650.1:p.Cys837Tyr
ENST00000699857.1:n.2518G>A
ENST00000699858.1:c.*1123G>A	ENSP00000514651.1:n.*1123G>A
ENST00000699859.1:c.2381G>A	ENSP00000514652.1:p.Cys794Tyr
ENST00000699860.1:n.581+291G>A
ENST00000699861.1:n.2532G>A
ENST00000699862.1:n.3470G>A
ENST00000449476.7:c.2405G>A	ENSP00000396018.2:p.Cys802Tyr
ENST00000581671.2:n.2499G>A
ENST00000643543.1:c.*1217G>A	ENSP00000494323.1:n.*1217G>A
ENST00000651323.1:c.2510G>A MANE Select	ENSP00000498499.1:p.Cys837Tyr
ENST00000315684.12:c.2510G>A	ENSP00000313759.8:p.Cys837Tyr
ENST00000449476.6:c.2405G>A	ENSP00000396018.2:p.Cys802Tyr
ENST00000578240.1:n.738G>A
ENST00000578441.5:n.11G>A
ENST00000578537.1:c.371+291G>A
NM_025099.5:c.2510G>A	NP_079375.3:p.Cys837Tyr
NR_046431.1:n.2464G>A
XM_006721577.2:c.2381G>A	XP_006721640.1:p.Cys794Tyr
XM_006721578.2:c.2510G>A	XP_006721641.1:p.Cys837Tyr
XM_006721579.2:c.2510G>A	XP_006721642.1:p.Cys837Tyr
XM_011524010.1:c.2405G>A	XP_011522312.1:p.Cys802Tyr
XM_011524011.1:c.1613G>A	XP_011522313.1:p.Cys538Tyr
XR_429823.2:n.2553G>A
XR_429824.2:n.2553G>A
XR_429825.1:n.2518+291G>A
NM_025099.6:c.2510G>A MANE Select	NP_079375.3:p.Cys837Tyr
XM_006721577.3:c.2381G>A	XP_006721640.1:p.Cys794Tyr
XM_006721578.3:c.2510G>A	XP_006721641.1:p.Cys837Tyr
XM_011524010.2:c.2405G>A	XP_011522312.1:p.Cys802Tyr
XM_011524011.2:c.1613G>A	XP_011522313.1:p.Cys538Tyr
XR_001752639.1:n.2424G>A
XR_001752640.1:n.2553G>A
XR_001752641.1:n.2553G>A
XR_001752642.1:n.2518+291G>A
XR_001752643.1:n.2983G>A
XR_002958073.1:n.2518+291G>A
XR_429823.3:n.2553G>A
XR_429824.3:n.2553G>A
NR_046431.2:n.2425G>A