Canonical Allele Identifier: CA397976212

Gene: CTC1

Linked Data

• ClinVar Variation Id: 1043999
• ClinVar RCV Id: RCV001348188
• dbSNP Id: rs1987214622
• MyVariant Identifiers: chr17:g.8134756G>C (hg19) ; chr17:g.8231438G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231438G>C , CM000679.2:g.8231438G>C	GRCh38
NC_000017.10:g.8134756G>C , CM000679.1:g.8134756G>C	GRCh37
NC_000017.9:g.8075481G>C	NCBI36
NG_032148.1:g.21658C>G
NG_032148.2:g.21658C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000580299.2:c.2507C>G	ENSP00000462607.2:p.Ser836Cys
ENST00000581729.2:c.2507C>G	ENSP00000462720.2:p.Ser836Cys
ENST00000581967.2:n.2959C>G
ENST00000583254.2:n.3556C>G
ENST00000699849.1:c.1610C>G	ENSP00000514647.1:p.Ser537Cys
ENST00000699850.1:n.1770C>G
ENST00000699851.1:n.2529C>G
ENST00000699852.1:c.*1183C>G	ENSP00000514648.1:n.*1183C>G
ENST00000699853.1:c.2507C>G	ENSP00000514649.1:p.Ser836Cys
ENST00000699854.1:n.2300C>G
ENST00000699855.1:n.2959C>G
ENST00000699856.1:c.2507C>G	ENSP00000514650.1:p.Ser836Cys
ENST00000699857.1:n.2515C>G
ENST00000699858.1:c.*1120C>G	ENSP00000514651.1:n.*1120C>G
ENST00000699859.1:c.2378C>G	ENSP00000514652.1:p.Ser793Cys
ENST00000699860.1:n.581+288C>G
ENST00000699861.1:n.2529C>G
ENST00000699862.1:n.3467C>G
ENST00000449476.7:c.2402C>G	ENSP00000396018.2:p.Ser801Cys
ENST00000581671.2:n.2496C>G
ENST00000643543.1:c.*1214C>G	ENSP00000494323.1:n.*1214C>G
ENST00000651323.1:c.2507C>G MANE Select	ENSP00000498499.1:p.Ser836Cys
ENST00000315684.12:c.2507C>G	ENSP00000313759.8:p.Ser836Cys
ENST00000449476.6:c.2402C>G	ENSP00000396018.2:p.Ser801Cys
ENST00000578240.1:n.735C>G
ENST00000578441.5:n.8C>G
ENST00000578537.1:c.371+288C>G
NM_025099.5:c.2507C>G	NP_079375.3:p.Ser836Cys
NR_046431.1:n.2461C>G
XM_006721577.2:c.2378C>G	XP_006721640.1:p.Ser793Cys
XM_006721578.2:c.2507C>G	XP_006721641.1:p.Ser836Cys
XM_006721579.2:c.2507C>G	XP_006721642.1:p.Ser836Cys
XM_011524010.1:c.2402C>G	XP_011522312.1:p.Ser801Cys
XM_011524011.1:c.1610C>G	XP_011522313.1:p.Ser537Cys
XR_429823.2:n.2550C>G
XR_429824.2:n.2550C>G
XR_429825.1:n.2518+288C>G
NM_025099.6:c.2507C>G MANE Select	NP_079375.3:p.Ser836Cys
XM_006721577.3:c.2378C>G	XP_006721640.1:p.Ser793Cys
XM_006721578.3:c.2507C>G	XP_006721641.1:p.Ser836Cys
XM_011524010.2:c.2402C>G	XP_011522312.1:p.Ser801Cys
XM_011524011.2:c.1610C>G	XP_011522313.1:p.Ser537Cys
XR_001752639.1:n.2421C>G
XR_001752640.1:n.2550C>G
XR_001752641.1:n.2550C>G
XR_001752642.1:n.2518+288C>G
XR_001752643.1:n.2980C>G
XR_002958073.1:n.2518+288C>G
XR_429823.3:n.2550C>G
XR_429824.3:n.2550C>G
NR_046431.2:n.2422C>G