Canonical Allele Identifier: CA497959092

Gene: CTC1

Linked Data

• dbSNP Id: rs769629643
• gnomAD v2: 17-8135419-C-T
• gnomAD v4: 17-8232101-C-T
• MyVariant Identifiers: chr17:g.8135419C>T (hg19) ; chr17:g.8232101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232101C>T , CM000679.2:g.8232101C>T	GRCh38
NC_000017.10:g.8135419C>T , CM000679.1:g.8135419C>T	GRCh37
NC_000017.9:g.8076144C>T	NCBI36
NG_032148.1:g.20995G>A
NG_032148.2:g.20995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2187G>A	ENSP00000462607.2:p.Gln729=
ENST00000581729.2:c.2187G>A	ENSP00000462720.2:p.Gln729=
ENST00000581967.2:n.2639G>A
ENST00000583254.2:n.2893G>A
ENST00000699849.1:c.1290G>A	ENSP00000514647.1:p.Gln430=
ENST00000699850.1:n.1450G>A
ENST00000699851.1:n.2209G>A
ENST00000699852.1:c.*863G>A	ENSP00000514648.1:n.*863G>A
ENST00000699853.1:c.2187G>A	ENSP00000514649.1:p.Gln729=
ENST00000699854.1:n.1980G>A
ENST00000699855.1:n.2639G>A
ENST00000699856.1:c.2187G>A	ENSP00000514650.1:p.Gln729=
ENST00000699857.1:n.2195G>A
ENST00000699858.1:c.*800G>A	ENSP00000514651.1:n.*800G>A
ENST00000699859.1:c.2058G>A	ENSP00000514652.1:p.Gln686=
ENST00000699860.1:n.293G>A
ENST00000699861.1:n.2209G>A
ENST00000699862.1:n.3147G>A
ENST00000449476.7:c.2082G>A	ENSP00000396018.2:p.Gln694=
ENST00000581671.2:n.2176G>A
ENST00000643543.1:c.*894G>A	ENSP00000494323.1:n.*894G>A
ENST00000651323.1:c.2187G>A MANE Select	ENSP00000498499.1:p.Gln729=
ENST00000315684.12:c.2187G>A	ENSP00000313759.8:p.Gln729=
ENST00000449476.6:c.2082G>A	ENSP00000396018.2:p.Gln694=
ENST00000578240.1:n.415G>A
ENST00000578537.1:c.83G>A
NM_025099.5:c.2187G>A	NP_079375.3:p.Gln729=
NR_046431.1:n.2141G>A
XM_006721577.2:c.2058G>A	XP_006721640.1:p.Gln686=
XM_006721578.2:c.2187G>A	XP_006721641.1:p.Gln729=
XM_006721579.2:c.2187G>A	XP_006721642.1:p.Gln729=
XM_011524010.1:c.2082G>A	XP_011522312.1:p.Gln694=
XM_011524011.1:c.1290G>A	XP_011522313.1:p.Gln430=
XR_429823.2:n.2230G>A
XR_429824.2:n.2230G>A
XR_429825.1:n.2230G>A
NM_025099.6:c.2187G>A MANE Select	NP_079375.3:p.Gln729=
XM_006721577.3:c.2058G>A	XP_006721640.1:p.Gln686=
XM_006721578.3:c.2187G>A	XP_006721641.1:p.Gln729=
XM_011524010.2:c.2082G>A	XP_011522312.1:p.Gln694=
XM_011524011.2:c.1290G>A	XP_011522313.1:p.Gln430=
XR_001752639.1:n.2101G>A
XR_001752640.1:n.2230G>A
XR_001752641.1:n.2230G>A
XR_001752642.1:n.2230G>A
XR_001752643.1:n.2660G>A
XR_002958073.1:n.2230G>A
XR_429823.3:n.2230G>A
XR_429824.3:n.2230G>A
NR_046431.2:n.2102G>A