Canonical Allele Identifier: CA8372013

Gene: CTC1

Linked Data

• ClinVar Variation Id: 1204059
• ClinVar RCV Id: RCV001570307
• dbSNP Id: rs3027239
• ExAC: 17:8134566 T / G
• gnomAD v2: 17-8134566-T-G
• gnomAD v3: 17-8231248-T-G
• gnomAD v4: 17-8231248-T-G
• MyVariant Identifiers: chr17:g.8134566T>G (hg19) ; chr17:g.8231248T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231248T>G , CM000679.2:g.8231248T>G	GRCh38
NC_000017.10:g.8134566T>G , CM000679.1:g.8134566T>G	GRCh37
NC_000017.9:g.8075291T>G	NCBI36
NG_032148.1:g.21848A>C
NG_032148.2:g.21848A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000580299.2:c.2669+28A>C	ENSP00000462607.2:n.2669+28A>C
ENST00000581729.2:c.2669+28A>C	ENSP00000462720.2:n.2669+28A>C
ENST00000581967.2:n.3121+28A>C
ENST00000583254.2:n.3746A>C
ENST00000699849.1:c.1772+28A>C	ENSP00000514647.1:n.1772+28A>C
ENST00000699850.1:n.1932+28A>C
ENST00000699851.1:n.2691+28A>C
ENST00000699852.1:c.*1345+28A>C	ENSP00000514648.1:n.*1345+28A>C
ENST00000699853.1:c.2669+28A>C	ENSP00000514649.1:n.2669+28A>C
ENST00000699854.1:n.2462+28A>C
ENST00000699855.1:n.3121+28A>C
ENST00000699856.1:c.2669+28A>C	ENSP00000514650.1:n.2669+28A>C
ENST00000699857.1:n.2677+28A>C
ENST00000699858.1:c.*1282+28A>C	ENSP00000514651.1:n.*1282+28A>C
ENST00000699859.1:c.2540+28A>C	ENSP00000514652.1:n.2540+28A>C
ENST00000699860.1:n.581+478A>C
ENST00000699861.1:n.2691+28A>C
ENST00000699862.1:n.3629+28A>C
ENST00000449476.7:c.2564+28A>C	ENSP00000396018.2:n.2564+28A>C
ENST00000581671.2:n.2658+28A>C
ENST00000643543.1:c.*1376+28A>C	ENSP00000494323.1:n.*1376+28A>C
ENST00000651323.1:c.2669+28A>C MANE Select	ENSP00000498499.1:n.2669+28A>C
ENST00000315684.12:c.2669+28A>C	ENSP00000313759.8:n.2669+28A>C
ENST00000449476.6:c.2564+28A>C	ENSP00000396018.2:n.2564+28A>C
ENST00000578240.1:n.897+28A>C
ENST00000578441.5:n.170+28A>C
ENST00000578537.1:c.371+478A>C
NM_025099.5:c.2669+28A>C	NP_079375.3:n.2669+28A>C
NR_046431.1:n.2623+28A>C
XM_006721577.2:c.2540+28A>C	XP_006721640.1:n.2540+28A>C
XM_006721578.2:c.2669+28A>C	XP_006721641.1:n.2669+28A>C
XM_006721579.2:c.2669+28A>C	XP_006721642.1:n.2669+28A>C
XM_011524010.1:c.2564+28A>C	XP_011522312.1:n.2564+28A>C
XM_011524011.1:c.1772+28A>C	XP_011522313.1:n.1772+28A>C
XR_429823.2:n.2712+28A>C
XR_429824.2:n.2712+28A>C
XR_429825.1:n.2518+478A>C
NM_025099.6:c.2669+28A>C MANE Select	NP_079375.3:n.2669+28A>C
XM_006721577.3:c.2540+28A>C	XP_006721640.1:n.2540+28A>C
XM_006721578.3:c.2669+28A>C	XP_006721641.1:n.2669+28A>C
XM_011524010.2:c.2564+28A>C	XP_011522312.1:n.2564+28A>C
XM_011524011.2:c.1772+28A>C	XP_011522313.1:n.1772+28A>C
XR_001752639.1:n.2583+28A>C
XR_001752640.1:n.2712+28A>C
XR_001752641.1:n.2712+28A>C
XR_001752642.1:n.2518+478A>C
XR_001752643.1:n.3142+28A>C
XR_002958073.1:n.2518+478A>C
XR_429823.3:n.2712+28A>C
XR_429824.3:n.2712+28A>C
NR_046431.2:n.2584+28A>C