Canonical Allele Identifier: CA397978545

Gene: CTC1

Linked Data

• gnomAD v4: 17-8232111-T-A
• MyVariant Identifiers: chr17:g.8135429T>A (hg19) ; chr17:g.8232111T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232111T>A , CM000679.2:g.8232111T>A	GRCh38
NC_000017.10:g.8135429T>A , CM000679.1:g.8135429T>A	GRCh37
NC_000017.9:g.8076154T>A	NCBI36
NG_032148.1:g.20985A>T
NG_032148.2:g.20985A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2177A>T	ENSP00000462607.2:p.His726Leu
ENST00000581729.2:c.2177A>T	ENSP00000462720.2:p.His726Leu
ENST00000581967.2:n.2629A>T
ENST00000583254.2:n.2883A>T
ENST00000699849.1:c.1280A>T	ENSP00000514647.1:p.His427Leu
ENST00000699850.1:n.1440A>T
ENST00000699851.1:n.2199A>T
ENST00000699852.1:c.*853A>T	ENSP00000514648.1:n.*853A>T
ENST00000699853.1:c.2177A>T	ENSP00000514649.1:p.His726Leu
ENST00000699854.1:n.1970A>T
ENST00000699855.1:n.2629A>T
ENST00000699856.1:c.2177A>T	ENSP00000514650.1:p.His726Leu
ENST00000699857.1:n.2185A>T
ENST00000699858.1:c.*790A>T	ENSP00000514651.1:n.*790A>T
ENST00000699859.1:c.2048A>T	ENSP00000514652.1:p.His683Leu
ENST00000699860.1:n.283A>T
ENST00000699861.1:n.2199A>T
ENST00000699862.1:n.3137A>T
ENST00000449476.7:c.2072A>T	ENSP00000396018.2:p.His691Leu
ENST00000581671.2:n.2166A>T
ENST00000643543.1:c.*884A>T	ENSP00000494323.1:n.*884A>T
ENST00000651323.1:c.2177A>T MANE Select	ENSP00000498499.1:p.His726Leu
ENST00000315684.12:c.2177A>T	ENSP00000313759.8:p.His726Leu
ENST00000449476.6:c.2072A>T	ENSP00000396018.2:p.His691Leu
ENST00000578240.1:n.405A>T
ENST00000578537.1:c.73A>T
NM_025099.5:c.2177A>T	NP_079375.3:p.His726Leu
NR_046431.1:n.2131A>T
XM_006721577.2:c.2048A>T	XP_006721640.1:p.His683Leu
XM_006721578.2:c.2177A>T	XP_006721641.1:p.His726Leu
XM_006721579.2:c.2177A>T	XP_006721642.1:p.His726Leu
XM_011524010.1:c.2072A>T	XP_011522312.1:p.His691Leu
XM_011524011.1:c.1280A>T	XP_011522313.1:p.His427Leu
XR_429823.2:n.2220A>T
XR_429824.2:n.2220A>T
XR_429825.1:n.2220A>T
NM_025099.6:c.2177A>T MANE Select	NP_079375.3:p.His726Leu
XM_006721577.3:c.2048A>T	XP_006721640.1:p.His683Leu
XM_006721578.3:c.2177A>T	XP_006721641.1:p.His726Leu
XM_011524010.2:c.2072A>T	XP_011522312.1:p.His691Leu
XM_011524011.2:c.1280A>T	XP_011522313.1:p.His427Leu
XR_001752639.1:n.2091A>T
XR_001752640.1:n.2220A>T
XR_001752641.1:n.2220A>T
XR_001752642.1:n.2220A>T
XR_001752643.1:n.2650A>T
XR_002958073.1:n.2220A>T
XR_429823.3:n.2220A>T
XR_429824.3:n.2220A>T
NR_046431.2:n.2092A>T