Canonical Allele Identifier: CA497958788

Gene: CTC1

Linked Data

• MyVariant Identifiers: chr17:g.8135080C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231762C>G , CM000679.2:g.8231762C>G	GRCh38
NC_000017.10:g.8135080C>G , CM000679.1:g.8135080C>G	GRCh37
NC_000017.9:g.8075805C>G	NCBI36
NG_032148.1:g.21334G>C
NG_032148.2:g.21334G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2439G>C	ENSP00000462607.2:p.Pro813=
ENST00000581729.2:c.2439G>C	ENSP00000462720.2:p.Pro813=
ENST00000581967.2:n.2891G>C
ENST00000583254.2:n.3232G>C
ENST00000699849.1:c.1542G>C	ENSP00000514647.1:p.Pro514=
ENST00000699850.1:n.1702G>C
ENST00000699851.1:n.2461G>C
ENST00000699852.1:c.*1115G>C	ENSP00000514648.1:n.*1115G>C
ENST00000699853.1:c.2439G>C	ENSP00000514649.1:p.Pro813=
ENST00000699854.1:n.2232G>C
ENST00000699855.1:n.2891G>C
ENST00000699856.1:c.2439G>C	ENSP00000514650.1:p.Pro813=
ENST00000699857.1:n.2447G>C
ENST00000699858.1:c.*1052G>C	ENSP00000514651.1:n.*1052G>C
ENST00000699859.1:c.2310G>C	ENSP00000514652.1:p.Pro770=
ENST00000699860.1:n.545G>C
ENST00000699861.1:n.2461G>C
ENST00000699862.1:n.3399G>C
ENST00000449476.7:c.2334G>C	ENSP00000396018.2:p.Pro778=
ENST00000581671.2:n.2428G>C
ENST00000643543.1:c.*1146G>C	ENSP00000494323.1:n.*1146G>C
ENST00000651323.1:c.2439G>C MANE Select	ENSP00000498499.1:p.Pro813=
ENST00000315684.12:c.2439G>C	ENSP00000313759.8:p.Pro813=
ENST00000449476.6:c.2334G>C	ENSP00000396018.2:p.Pro778=
ENST00000578240.1:n.667G>C
ENST00000578537.1:c.335G>C
NM_025099.5:c.2439G>C	NP_079375.3:p.Pro813=
NR_046431.1:n.2393G>C
XM_006721577.2:c.2310G>C	XP_006721640.1:p.Pro770=
XM_006721578.2:c.2439G>C	XP_006721641.1:p.Pro813=
XM_006721579.2:c.2439G>C	XP_006721642.1:p.Pro813=
XM_011524010.1:c.2334G>C	XP_011522312.1:p.Pro778=
XM_011524011.1:c.1542G>C	XP_011522313.1:p.Pro514=
XR_429823.2:n.2482G>C
XR_429824.2:n.2482G>C
XR_429825.1:n.2482G>C
NM_025099.6:c.2439G>C MANE Select	NP_079375.3:p.Pro813=
XM_006721577.3:c.2310G>C	XP_006721640.1:p.Pro770=
XM_006721578.3:c.2439G>C	XP_006721641.1:p.Pro813=
XM_011524010.2:c.2334G>C	XP_011522312.1:p.Pro778=
XM_011524011.2:c.1542G>C	XP_011522313.1:p.Pro514=
XR_001752639.1:n.2353G>C
XR_001752640.1:n.2482G>C
XR_001752641.1:n.2482G>C
XR_001752642.1:n.2482G>C
XR_001752643.1:n.2912G>C
XR_002958073.1:n.2482G>C
XR_429823.3:n.2482G>C
XR_429824.3:n.2482G>C
NR_046431.2:n.2354G>C