Canonical Allele Identifier: CA624731382

Gene: CTC1

Linked Data

• dbSNP Id: rs1172765202
• gnomAD v2: 17-8134264-G-A
• gnomAD v3: 17-8230946-G-A
• gnomAD v4: 17-8230946-G-A
• MyVariant Identifiers: chr17:g.8134264G>A (hg19) ; chr17:g.8230946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8230946G>A , CM000679.2:g.8230946G>A	GRCh38
NC_000017.10:g.8134264G>A , CM000679.1:g.8134264G>A	GRCh37
NC_000017.9:g.8074989G>A	NCBI36
NG_032148.1:g.22150C>T
NG_032148.2:g.22150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2670-295C>T	ENSP00000462607.2:n.2670-295C>T
ENST00000581729.2:c.2670-295C>T	ENSP00000462720.2:n.2670-295C>T
ENST00000581967.2:n.3122-295C>T
ENST00000583254.2:n.4048C>T
ENST00000699849.1:c.1773-295C>T	ENSP00000514647.1:n.1773-295C>T
ENST00000699850.1:n.1933-295C>T
ENST00000699851.1:n.2692-295C>T
ENST00000699852.1:c.*1346-295C>T	ENSP00000514648.1:n.*1346-295C>T
ENST00000699853.1:c.2670-295C>T	ENSP00000514649.1:n.2670-295C>T
ENST00000699854.1:n.2463-295C>T
ENST00000699855.1:n.3122-295C>T
ENST00000699856.1:c.2670-295C>T	ENSP00000514650.1:n.2670-295C>T
ENST00000699857.1:n.2678-295C>T
ENST00000699858.1:c.*1283-295C>T	ENSP00000514651.1:n.*1283-295C>T
ENST00000699859.1:c.2541-295C>T	ENSP00000514652.1:n.2541-295C>T
ENST00000699860.1:n.582-295C>T
ENST00000699861.1:n.2692-295C>T
ENST00000699862.1:n.3630-295C>T
ENST00000449476.7:c.2565-295C>T	ENSP00000396018.2:n.2565-295C>T
ENST00000581671.2:n.2659-295C>T
ENST00000643543.1:c.*1377-295C>T	ENSP00000494323.1:n.*1377-295C>T
ENST00000651323.1:c.2670-295C>T MANE Select	ENSP00000498499.1:n.2670-295C>T
ENST00000315684.12:c.2670-295C>T	ENSP00000313759.8:n.2670-295C>T
ENST00000449476.6:c.2565-295C>T	ENSP00000396018.2:n.2565-295C>T
ENST00000578240.1:n.898-295C>T
ENST00000578441.5:n.171-295C>T
ENST00000578537.1:c.372-295C>T
NM_025099.5:c.2670-295C>T	NP_079375.3:n.2670-295C>T
NR_046431.1:n.2624-295C>T
XM_006721577.2:c.2541-295C>T	XP_006721640.1:n.2541-295C>T
XM_006721578.2:c.2670-295C>T	XP_006721641.1:n.2670-295C>T
XM_006721579.2:c.2670-295C>T	XP_006721642.1:n.2670-295C>T
XM_011524010.1:c.2565-295C>T	XP_011522312.1:n.2565-295C>T
XM_011524011.1:c.1773-295C>T	XP_011522313.1:n.1773-295C>T
XR_429823.2:n.2713-295C>T
XR_429824.2:n.2713-295C>T
XR_429825.1:n.2519-295C>T
NM_025099.6:c.2670-295C>T MANE Select	NP_079375.3:n.2670-295C>T
XM_006721577.3:c.2541-295C>T	XP_006721640.1:n.2541-295C>T
XM_006721578.3:c.2670-295C>T	XP_006721641.1:n.2670-295C>T
XM_011524010.2:c.2565-295C>T	XP_011522312.1:n.2565-295C>T
XM_011524011.2:c.1773-295C>T	XP_011522313.1:n.1773-295C>T
XR_001752639.1:n.2584-295C>T
XR_001752640.1:n.2713-295C>T
XR_001752641.1:n.2713-295C>T
XR_001752642.1:n.2519-295C>T
XR_001752643.1:n.3143-295C>T
XR_002958073.1:n.2519-295C>T
XR_429823.3:n.2713-295C>T
XR_429824.3:n.2713-295C>T
NR_046431.2:n.2585-295C>T