Canonical Allele Identifier: CA397978576

Gene: CTC1

Linked Data

• dbSNP Id: rs371046424
• gnomAD v2: 17-8135432-G-T
• gnomAD v4: 17-8232114-G-T
• MyVariant Identifiers: chr17:g.8135432G>T (hg19) ; chr17:g.8232114G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232114G>T , CM000679.2:g.8232114G>T	GRCh38
NC_000017.10:g.8135432G>T , CM000679.1:g.8135432G>T	GRCh37
NC_000017.9:g.8076157G>T	NCBI36
NG_032148.1:g.20982C>A
NG_032148.2:g.20982C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2174C>A	ENSP00000462607.2:p.Pro725His
ENST00000581729.2:c.2174C>A	ENSP00000462720.2:p.Pro725His
ENST00000581967.2:n.2626C>A
ENST00000583254.2:n.2880C>A
ENST00000699849.1:c.1277C>A	ENSP00000514647.1:p.Pro426His
ENST00000699850.1:n.1437C>A
ENST00000699851.1:n.2196C>A
ENST00000699852.1:c.*850C>A	ENSP00000514648.1:n.*850C>A
ENST00000699853.1:c.2174C>A	ENSP00000514649.1:p.Pro725His
ENST00000699854.1:n.1967C>A
ENST00000699855.1:n.2626C>A
ENST00000699856.1:c.2174C>A	ENSP00000514650.1:p.Pro725His
ENST00000699857.1:n.2182C>A
ENST00000699858.1:c.*787C>A	ENSP00000514651.1:n.*787C>A
ENST00000699859.1:c.2045C>A	ENSP00000514652.1:p.Pro682His
ENST00000699860.1:n.280C>A
ENST00000699861.1:n.2196C>A
ENST00000699862.1:n.3134C>A
ENST00000449476.7:c.2069C>A	ENSP00000396018.2:p.Pro690His
ENST00000581671.2:n.2163C>A
ENST00000643543.1:c.*881C>A	ENSP00000494323.1:n.*881C>A
ENST00000651323.1:c.2174C>A MANE Select	ENSP00000498499.1:p.Pro725His
ENST00000315684.12:c.2174C>A	ENSP00000313759.8:p.Pro725His
ENST00000449476.6:c.2069C>A	ENSP00000396018.2:p.Pro690His
ENST00000578240.1:n.402C>A
ENST00000578537.1:c.70C>A
NM_025099.5:c.2174C>A	NP_079375.3:p.Pro725His
NR_046431.1:n.2128C>A
XM_006721577.2:c.2045C>A	XP_006721640.1:p.Pro682His
XM_006721578.2:c.2174C>A	XP_006721641.1:p.Pro725His
XM_006721579.2:c.2174C>A	XP_006721642.1:p.Pro725His
XM_011524010.1:c.2069C>A	XP_011522312.1:p.Pro690His
XM_011524011.1:c.1277C>A	XP_011522313.1:p.Pro426His
XR_429823.2:n.2217C>A
XR_429824.2:n.2217C>A
XR_429825.1:n.2217C>A
NM_025099.6:c.2174C>A MANE Select	NP_079375.3:p.Pro725His
XM_006721577.3:c.2045C>A	XP_006721640.1:p.Pro682His
XM_006721578.3:c.2174C>A	XP_006721641.1:p.Pro725His
XM_011524010.2:c.2069C>A	XP_011522312.1:p.Pro690His
XM_011524011.2:c.1277C>A	XP_011522313.1:p.Pro426His
XR_001752639.1:n.2088C>A
XR_001752640.1:n.2217C>A
XR_001752641.1:n.2217C>A
XR_001752642.1:n.2217C>A
XR_001752643.1:n.2647C>A
XR_002958073.1:n.2217C>A
XR_429823.3:n.2217C>A
XR_429824.3:n.2217C>A
NR_046431.2:n.2089C>A