Canonical Allele Identifier: CA497959259

Gene: CTC1

Linked Data

• gnomAD v4: 17-8232194-C-A
• MyVariant Identifiers: chr17:g.8135512C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232194C>A , CM000679.2:g.8232194C>A	GRCh38
NC_000017.10:g.8135512C>A , CM000679.1:g.8135512C>A	GRCh37
NC_000017.9:g.8076237C>A	NCBI36
NG_032148.1:g.20902G>T
NG_032148.2:g.20902G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2094G>T	ENSP00000462607.2:p.Leu698=
ENST00000581729.2:c.2094G>T	ENSP00000462720.2:p.Leu698=
ENST00000581967.2:n.2546G>T
ENST00000583254.2:n.2800G>T
ENST00000699849.1:c.1197G>T	ENSP00000514647.1:p.Leu399=
ENST00000699850.1:n.1357G>T
ENST00000699851.1:n.2116G>T
ENST00000699852.1:c.*770G>T	ENSP00000514648.1:n.*770G>T
ENST00000699853.1:c.2094G>T	ENSP00000514649.1:p.Leu698=
ENST00000699854.1:n.1887G>T
ENST00000699855.1:n.2546G>T
ENST00000699856.1:c.2094G>T	ENSP00000514650.1:p.Leu698=
ENST00000699857.1:n.2102G>T
ENST00000699858.1:c.*707G>T	ENSP00000514651.1:n.*707G>T
ENST00000699859.1:c.1965G>T	ENSP00000514652.1:p.Leu655=
ENST00000699860.1:n.200G>T
ENST00000699861.1:n.2116G>T
ENST00000699862.1:n.3054G>T
ENST00000449476.7:c.1989G>T	ENSP00000396018.2:p.Leu663=
ENST00000581671.2:n.2083G>T
ENST00000643543.1:c.*801G>T	ENSP00000494323.1:n.*801G>T
ENST00000651323.1:c.2094G>T MANE Select	ENSP00000498499.1:p.Leu698=
ENST00000315684.12:c.2094G>T	ENSP00000313759.8:p.Leu698=
ENST00000449476.6:c.1989G>T	ENSP00000396018.2:p.Leu663=
ENST00000578240.1:n.322G>T
NM_025099.5:c.2094G>T	NP_079375.3:p.Leu698=
NR_046431.1:n.2048G>T
XM_006721577.2:c.1965G>T	XP_006721640.1:p.Leu655=
XM_006721578.2:c.2094G>T	XP_006721641.1:p.Leu698=
XM_006721579.2:c.2094G>T	XP_006721642.1:p.Leu698=
XM_011524010.1:c.1989G>T	XP_011522312.1:p.Leu663=
XM_011524011.1:c.1197G>T	XP_011522313.1:p.Leu399=
XR_429823.2:n.2137G>T
XR_429824.2:n.2137G>T
XR_429825.1:n.2137G>T
NM_025099.6:c.2094G>T MANE Select	NP_079375.3:p.Leu698=
XM_006721577.3:c.1965G>T	XP_006721640.1:p.Leu655=
XM_006721578.3:c.2094G>T	XP_006721641.1:p.Leu698=
XM_011524010.2:c.1989G>T	XP_011522312.1:p.Leu663=
XM_011524011.2:c.1197G>T	XP_011522313.1:p.Leu399=
XR_001752639.1:n.2008G>T
XR_001752640.1:n.2137G>T
XR_001752641.1:n.2137G>T
XR_001752642.1:n.2137G>T
XR_001752643.1:n.2567G>T
XR_002958073.1:n.2137G>T
XR_429823.3:n.2137G>T
XR_429824.3:n.2137G>T
NR_046431.2:n.2009G>T