Canonical Allele Identifier: CA397975815

Gene: CTC1

Linked Data

• gnomAD v4: 17-8231371-C-T
• MyVariant Identifiers: chr17:g.8134689C>T (hg19) ; chr17:g.8231371C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231371C>T , CM000679.2:g.8231371C>T	GRCh38
NC_000017.10:g.8134689C>T , CM000679.1:g.8134689C>T	GRCh37
NC_000017.9:g.8075414C>T	NCBI36
NG_032148.1:g.21725G>A
NG_032148.2:g.21725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2574G>A	ENSP00000462607.2:p.Trp858Ter
ENST00000581729.2:c.2574G>A	ENSP00000462720.2:p.Trp858Ter
ENST00000581967.2:n.3026G>A
ENST00000583254.2:n.3623G>A
ENST00000699849.1:c.1677G>A	ENSP00000514647.1:p.Trp559Ter
ENST00000699850.1:n.1837G>A
ENST00000699851.1:n.2596G>A
ENST00000699852.1:c.*1250G>A	ENSP00000514648.1:n.*1250G>A
ENST00000699853.1:c.2574G>A	ENSP00000514649.1:p.Trp858Ter
ENST00000699854.1:n.2367G>A
ENST00000699855.1:n.3026G>A
ENST00000699856.1:c.2574G>A	ENSP00000514650.1:p.Trp858Ter
ENST00000699857.1:n.2582G>A
ENST00000699858.1:c.*1187G>A	ENSP00000514651.1:n.*1187G>A
ENST00000699859.1:c.2445G>A	ENSP00000514652.1:p.Trp815Ter
ENST00000699860.1:n.581+355G>A
ENST00000699861.1:n.2596G>A
ENST00000699862.1:n.3534G>A
ENST00000449476.7:c.2469G>A	ENSP00000396018.2:p.Trp823Ter
ENST00000581671.2:n.2563G>A
ENST00000643543.1:c.*1281G>A	ENSP00000494323.1:n.*1281G>A
ENST00000651323.1:c.2574G>A MANE Select	ENSP00000498499.1:p.Trp858Ter
ENST00000315684.12:c.2574G>A	ENSP00000313759.8:p.Trp858Ter
ENST00000449476.6:c.2469G>A	ENSP00000396018.2:p.Trp823Ter
ENST00000578240.1:n.802G>A
ENST00000578441.5:n.75G>A
ENST00000578537.1:c.371+355G>A
NM_025099.5:c.2574G>A	NP_079375.3:p.Trp858Ter
NR_046431.1:n.2528G>A
XM_006721577.2:c.2445G>A	XP_006721640.1:p.Trp815Ter
XM_006721578.2:c.2574G>A	XP_006721641.1:p.Trp858Ter
XM_006721579.2:c.2574G>A	XP_006721642.1:p.Trp858Ter
XM_011524010.1:c.2469G>A	XP_011522312.1:p.Trp823Ter
XM_011524011.1:c.1677G>A	XP_011522313.1:p.Trp559Ter
XR_429823.2:n.2617G>A
XR_429824.2:n.2617G>A
XR_429825.1:n.2518+355G>A
NM_025099.6:c.2574G>A MANE Select	NP_079375.3:p.Trp858Ter
XM_006721577.3:c.2445G>A	XP_006721640.1:p.Trp815Ter
XM_006721578.3:c.2574G>A	XP_006721641.1:p.Trp858Ter
XM_011524010.2:c.2469G>A	XP_011522312.1:p.Trp823Ter
XM_011524011.2:c.1677G>A	XP_011522313.1:p.Trp559Ter
XR_001752639.1:n.2488G>A
XR_001752640.1:n.2617G>A
XR_001752641.1:n.2617G>A
XR_001752642.1:n.2518+355G>A
XR_001752643.1:n.3047G>A
XR_002958073.1:n.2518+355G>A
XR_429823.3:n.2617G>A
XR_429824.3:n.2617G>A
NR_046431.2:n.2489G>A