Canonical Allele Identifier: CA497780576

Gene: CTC1

Linked Data

• ClinVar Variation Id: 2723266
• ClinVar RCV Id: RCV003530773
• dbSNP Id: rs1294604824
• MyVariant Identifiers: chr17:g.8135750C>T (hg19) ; chr17:g.8232432C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232432C>T , CM000679.2:g.8232432C>T	GRCh38
NC_000017.10:g.8135750C>T , CM000679.1:g.8135750C>T	GRCh37
NC_000017.9:g.8076475C>T	NCBI36
NG_032148.1:g.20664G>A
NG_032148.2:g.20664G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000580299.2:c.1989G>A	ENSP00000462607.2:p.Arg663=
ENST00000581729.2:c.1989G>A	ENSP00000462720.2:p.Arg663=
ENST00000581967.2:n.2441G>A
ENST00000583254.2:n.2695G>A
ENST00000699849.1:c.1092G>A	ENSP00000514647.1:p.Arg364=
ENST00000699850.1:n.1252G>A
ENST00000699851.1:n.2011G>A
ENST00000699852.1:c.*665G>A	ENSP00000514648.1:n.*665G>A
ENST00000699853.1:c.1989G>A	ENSP00000514649.1:p.Arg663=
ENST00000699854.1:n.1782G>A
ENST00000699855.1:n.2441G>A
ENST00000699856.1:c.1989G>A	ENSP00000514650.1:p.Arg663=
ENST00000699857.1:n.1997G>A
ENST00000699858.1:c.*602G>A	ENSP00000514651.1:n.*602G>A
ENST00000699859.1:c.1860G>A	ENSP00000514652.1:p.Arg620=
ENST00000699860.1:n.95G>A
ENST00000699861.1:n.2011G>A
ENST00000699862.1:n.2949G>A
ENST00000449476.7:c.1884G>A	ENSP00000396018.2:p.Arg628=
ENST00000581671.2:n.1978G>A
ENST00000643543.1:c.*696G>A	ENSP00000494323.1:n.*696G>A
ENST00000651323.1:c.1989G>A MANE Select	ENSP00000498499.1:p.Arg663=
ENST00000315684.12:c.1989G>A	ENSP00000313759.8:p.Arg663=
ENST00000449476.6:c.1884G>A	ENSP00000396018.2:p.Arg628=
ENST00000578240.1:n.217G>A
NM_025099.5:c.1989G>A	NP_079375.3:p.Arg663=
NR_046431.1:n.1943G>A
XM_006721577.2:c.1860G>A	XP_006721640.1:p.Arg620=
XM_006721578.2:c.1989G>A	XP_006721641.1:p.Arg663=
XM_006721579.2:c.1989G>A	XP_006721642.1:p.Arg663=
XM_011524010.1:c.1884G>A	XP_011522312.1:p.Arg628=
XM_011524011.1:c.1092G>A	XP_011522313.1:p.Arg364=
XR_429823.2:n.2032G>A
XR_429824.2:n.2032G>A
XR_429825.1:n.2032G>A
NM_025099.6:c.1989G>A MANE Select	NP_079375.3:p.Arg663=
XM_006721577.3:c.1860G>A	XP_006721640.1:p.Arg620=
XM_006721578.3:c.1989G>A	XP_006721641.1:p.Arg663=
XM_011524010.2:c.1884G>A	XP_011522312.1:p.Arg628=
XM_011524011.2:c.1092G>A	XP_011522313.1:p.Arg364=
XR_001752639.1:n.1903G>A
XR_001752640.1:n.2032G>A
XR_001752641.1:n.2032G>A
XR_001752642.1:n.2032G>A
XR_001752643.1:n.2462G>A
XR_001752644.1:n.2318G>A
XR_002958073.1:n.2032G>A
XR_429823.3:n.2032G>A
XR_429824.3:n.2032G>A
NR_046431.2:n.1904G>A