Canonical Allele Identifier: CA397979051

Gene: CTC1

Linked Data

• gnomAD v4: 17-8232192-A-G
• MyVariant Identifiers: chr17:g.8135510A>G (hg19) ; chr17:g.8232192A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232192A>G , CM000679.2:g.8232192A>G	GRCh38
NC_000017.10:g.8135510A>G , CM000679.1:g.8135510A>G	GRCh37
NC_000017.9:g.8076235A>G	NCBI36
NG_032148.1:g.20904T>C
NG_032148.2:g.20904T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2096T>C	ENSP00000462607.2:p.Ile699Thr
ENST00000581729.2:c.2096T>C	ENSP00000462720.2:p.Ile699Thr
ENST00000581967.2:n.2548T>C
ENST00000583254.2:n.2802T>C
ENST00000699849.1:c.1199T>C	ENSP00000514647.1:p.Ile400Thr
ENST00000699850.1:n.1359T>C
ENST00000699851.1:n.2118T>C
ENST00000699852.1:c.*772T>C	ENSP00000514648.1:n.*772T>C
ENST00000699853.1:c.2096T>C	ENSP00000514649.1:p.Ile699Thr
ENST00000699854.1:n.1889T>C
ENST00000699855.1:n.2548T>C
ENST00000699856.1:c.2096T>C	ENSP00000514650.1:p.Ile699Thr
ENST00000699857.1:n.2104T>C
ENST00000699858.1:c.*709T>C	ENSP00000514651.1:n.*709T>C
ENST00000699859.1:c.1967T>C	ENSP00000514652.1:p.Ile656Thr
ENST00000699860.1:n.202T>C
ENST00000699861.1:n.2118T>C
ENST00000699862.1:n.3056T>C
ENST00000449476.7:c.1991T>C	ENSP00000396018.2:p.Ile664Thr
ENST00000581671.2:n.2085T>C
ENST00000643543.1:c.*803T>C	ENSP00000494323.1:n.*803T>C
ENST00000651323.1:c.2096T>C MANE Select	ENSP00000498499.1:p.Ile699Thr
ENST00000315684.12:c.2096T>C	ENSP00000313759.8:p.Ile699Thr
ENST00000449476.6:c.1991T>C	ENSP00000396018.2:p.Ile664Thr
ENST00000578240.1:n.324T>C
NM_025099.5:c.2096T>C	NP_079375.3:p.Ile699Thr
NR_046431.1:n.2050T>C
XM_006721577.2:c.1967T>C	XP_006721640.1:p.Ile656Thr
XM_006721578.2:c.2096T>C	XP_006721641.1:p.Ile699Thr
XM_006721579.2:c.2096T>C	XP_006721642.1:p.Ile699Thr
XM_011524010.1:c.1991T>C	XP_011522312.1:p.Ile664Thr
XM_011524011.1:c.1199T>C	XP_011522313.1:p.Ile400Thr
XR_429823.2:n.2139T>C
XR_429824.2:n.2139T>C
XR_429825.1:n.2139T>C
NM_025099.6:c.2096T>C MANE Select	NP_079375.3:p.Ile699Thr
XM_006721577.3:c.1967T>C	XP_006721640.1:p.Ile656Thr
XM_006721578.3:c.2096T>C	XP_006721641.1:p.Ile699Thr
XM_011524010.2:c.1991T>C	XP_011522312.1:p.Ile664Thr
XM_011524011.2:c.1199T>C	XP_011522313.1:p.Ile400Thr
XR_001752639.1:n.2010T>C
XR_001752640.1:n.2139T>C
XR_001752641.1:n.2139T>C
XR_001752642.1:n.2139T>C
XR_001752643.1:n.2569T>C
XR_002958073.1:n.2139T>C
XR_429823.3:n.2139T>C
XR_429824.3:n.2139T>C
NR_046431.2:n.2011T>C